Congenital optic nerve anomalies | Archivos de la Sociedad Española de Oftalmología (English Edition)

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Only choroidal vessels can be observed, but papilla or central retinal vessels cannot be clearly seen." ] ] ] "textoCompleto" => "IntroductionCongenital and developmental optic nerve anomalies comprise a heterogeneous group that has been classified on the basis of morphology, cup shape and presence of an anomalous tissue at the optic disk level (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>). The majority of these anomalies exhibit common general characteristics, and are summarized below:<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005">–Some of these anomalies (optic nerve aplasia, papillary coloboma, morning glory anomaly and peripapillary staphyloma) produce diminished vision, nystagmus or strabismus. In general, bilateral cases express early with poor vision and nystagmus while unilateral anomalies express later with sensory strabismus. Other anomalies such as the optic dimple, megalopapilla and papillary drusen exhibit normal vision unless associating complications.</li><li class="elsevierStyleListItem" id="lsti0010">–Color vision is generally preserved, which does not occur in acquired optic neuropathies.</li><li class="elsevierStyleListItem" id="lsti0015">–Refraction defects are very frequent, making it important to submit all patients to refraction under cycloplegia.</li><li class="elsevierStyleListItem" id="lsti0020">–It has been confirmed that bilateral cases present better vision than unilateral ones, recommending the prescription of occlusions in unilateral cases for treating the associated amblyopia component.</li><li class="elsevierStyleListItem" id="lsti0025">–Serous retina detachment (RD) has been described in over 50% of patients with papillary coloboma, morning glory anomaly and optic dimple. It has been proposed that these anomalies exhibit architectural alterations in the critical area where the optic nerve exits the ocular globe that produce a connection between the vitreous, the subretinal and subarachnoid space and possibly the orbit space, which would facilitate the development of RD. The origin of the subretinal fluid is controversial but it is believed it arises out of the vitreous cavity and the subarachnoid space.<a class="elsevierStyleCrossRef" href="#bib0325">1</a> For this reason, it is necessary to maintain serial follow-up of the ocular fundus to establish an early diagnostic of this complication that would worsen the visual prognostic of these patients. It is also recommendable to carry out eyesight assessments weekly in order to detect this complication at the earliest stage. In small children, parents should be requested to occlude the healthy eye or both eyes alternately (in bilateral involvement) and observe any changes in the visual behavior of the child.</li><li class="elsevierStyleListItem" id="lsti0030">–In addition to the above, it must not he forgotten that many of these anomalies can be associated with systemic and/or central nervous system (SNC) malformations. Accordingly, supplementary examinations should be requested on an individual basis.</li></ul><elsevierMultimedia ident="tbl0005"></elsevierMultimedia>Optic nerve aplasiaOptic nerve aplasia is a rare, non-hereditary and usually unilateral (80%) anomaly, characterized by the congenital absence of optic nerve fibers, retinal ganglion cells (RGC) and central retinal vessels. The etiopathogeny of optic nerve aplasia is unknown but several theories have been proposed, including defects in RGC formation, problems in retinal development and angiogenesis, embryo groove malformation or mesenchymal failure.<a class="elsevierStyleCrossRef" href="#bib0330">2</a>Ocular fundus appearance can range between inability to identify the papilla and observing a whitish area or deep cup in the place of the papilla, but in all cases associated to the absence of the central retina vessels (<a class="elsevierStyleCrossRefs" href="#fig0005">Figs. 1 and 2</a>). Vision is of no perception of light and the photomotor reflex is abolished. This can be due to an isolated ocular malformation but it is usually associated to other ocular congenital anomalies (microphthalmia, sclerocornea, anterior segment dysgenesia, corneal edema, persistence of the tunica vasculosa lentis, iris anomalies, cataract, persistent feet and vascularization [PFV] or retinal displasia) or it can be related to SNC malformations. The unilateral forms are generally associated to normal cerebral development whereas the bilateral form exhibits associations with cerebral malformations: ectopic neurohypophysis, hydranencephaly, orbital meningoencephalocele, anencephalia, etc.<a class="elsevierStyleCrossRef" href="#bib0335">3</a> In addition, cardiovascular, gastrointestinal and vertebral anomalies have been described in these patients.<a class="elsevierStyleCrossRef" href="#bib0340">4</a> Accordingly, it is recommended to request a cerebral magnetic resonance (MR) if the optic nerve aplasia is bilateral.<elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia>Optic nerve hypoplasiaOptic nerve hypoplasia is the most frequent congenital optic nerve anomaly. It presents sporadically and bilaterally in 70% of cases and is characterized by a lower number of optic fibers. The appearance of the papilla will depend on the time at which the immature visual system is insulted. If the lesion occurs before gestation week 28 when the supporting structures (sclera, pia, dura and lamina cribrosa) are immature, the result will be a small papilla (between half and one third of the normal size) usually accompanied by retina vessel tortuosity and a hypo-pigmentation ring surrounding the optic disk known as the double ring sign (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). Whereas, if the lesion occurs in the 3rd quarter of gestation, when the support structures are mature, the result would be a normal size and papilla but with a large dimple. The latter morphology is observed in premature children with periventricular leukomalacia acquired in the late stages of gestation, which produces a bilateral lesion of the optic radiations with retrograde trans-synaptic degeneration of the retinogeniculate axons<a class="elsevierStyleCrossRefs" href="#bib0345">5–7</a> (<a class="elsevierStyleCrossRef" href="#fig0020">Fig. 4</a>). In other cases, a superior segment hypoplasia is observed, known as “topless optic disk”, characterized by a thinned superior neuro-retinal ring, pallor in the superior portion of the optic disk and a scleral halo at the same level. This has been described in children of diabetes type I mothers.<a class="elsevierStyleCrossRef" href="#bib0360">8</a><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia>Focusing on optic nerve hypoplasia with small papilla, i.e., the most frequent case, the only risk factors that have demonstrated clear association with development are the young age of the mother and being the first child.<a class="elsevierStyleCrossRef" href="#bib0365">9</a> Vision can range between 1 and no perception of light, without clear correlation with the overall size of the papilla. However, 75–80% of bilateral cases are legally blind, making this pathology an important cause of blindness and cerebral visual deficiency.<a class="elsevierStyleCrossRefs" href="#bib0370">10,11</a>Both in unilateral and bilateral anomalies, patients with optic nerve hypoplasia and small optic discs usually present associated cerebral malformations. The most frequent anomalies are the absence of the septum pellucidum (51%), corpus callosum hypoplasia, migration anomalies (schizencephaly or gray matter heterotopia) and hypophysis anomalies (empty sella turca, neurohypophysis agenesia or ectopia and infundibulum absence). In addition, endocrinologic deficits have been described due to involvement of the hypothalamus-hypophysis axis in a high percentage of these patients: growth hormone deficit (70%), hypothyroidism (43%), adrenal insufficiency (27%), hyperprolactinemia (62%), among others.<a class="elsevierStyleCrossRef" href="#bib0380">12</a> It should be borne in mind that even though the study of hypophysis function gives normal results, the possibility of these patients develop endocrine disorders in the future cannot be discarded.<a class="elsevierStyleCrossRef" href="#bib0385">13</a> Hypophysis alteration in MR is the main factor associated to the presence of hypopituitarism. Ramakrishnaiah et al.<a class="elsevierStyleCrossRef" href="#bib0390">14</a> reported that hypophysis alterations in MR have 96% sensitivity and 92% specificity for detecting hypopituitarism in these patients. The endocrinological study should comprise: morning glucose and cortisol on an empty stomach, thyrotropin, free thyroxine, insulin growth factor type 1 and insulin-like growth factor binding protein 3. In infants under 6 months luteinizing hormone, follicle-stimulating hormone and/or testosterone should also be included.Until a few years ago it was considered important to discard the presence of septo-optic dysplasia or Morsier syndrome due to the frequent association between hypopituitarism and the absence of the septum pellucidum in these patients, although recent studies indicate that both are independent entities.<a class="elsevierStyleCrossRefs" href="#bib0385">13,15</a>With any patient exhibiting uni-or bilateral optic nerve hypoplasia with small optic disk it is crucial to request cerebral MR to discard the above cerebral malformations. The authors believe that the endocrinological study would be necessary only when neuroimaging shows hypophysis alterations, although the literature continues to recommend requesting it for all patients.Tilted optic diskTilted optic disk appears in one-2% of the population, being sporadic and bilateral in 80% of cases.<a class="elsevierStyleCrossRef" href="#bib0400">16</a> It is believed that the appearance of the papilla is because the optic nerve penetrates the eye at an oblique angle while presenting rotation along the antero-posterior axis and the inferior crescent would be due to the disparity between retinal and scleral opening. Oblique optic disk pathogeny is uncertain although it could occur due to failed embryo cleft closure, as in the case of colobomas.<a class="elsevierStyleCrossRef" href="#bib0405">17</a>Tilted optic disk is characterized by an exaggeratedly oval-shaped, with one half of the disk higher than the contralateral half. It is frequent to observe a superotemporal elevation of the optic disk while the inferonasal area is posteriorly displaced, producing an oblique appearance of the papilla associated to an inferonasal crescent (<a class="elsevierStyleCrossRef" href="#fig0025">Fig. 5</a>). Other frequent ophthalmoscopic findings include peripapillary atrophy, posterior staphyloma, chorioretinal thinning and situs inversus (vessels exit through the nasal side of the papilla and subsequently curve inwardly toward the temporal ocular globe area).<elsevierMultimedia ident="fig0025"></elsevierMultimedia>Visual acuity is usually diminished and color vision altered in a high percentage of cases. Tilted optic disk is very frequently associated to myopia and astigmatism, with the positive axis oriented in parallel to the ectasia, with a correlation between the degree of astigmatism and papillary morphology so that higher astigmatism is proportional to the tilt of the papilla.<a class="elsevierStyleCrossRef" href="#bib0410">18</a> In addition, these patients could exhibit campimetric defects, predominantly located in the superior temporal quadrant without respecting the vertical meridian. Other visual field findings observed in these patients are arcuate defects, enlarged blind spots and visual field contraction.<a class="elsevierStyleCrossRefs" href="#bib0415">19,20</a> These campimetric defects are usually relative, nonprogressive and are usually resolved utilizing larger stimulus size or after optical correction. Visual field defects have been correlated with the refractive defect degree and with inferonasal ectasia.It is important to identify said anomaly to differentiate it from other pathologies that cause progressive loss of vision. On the one hand the configuration of the disk with a raised portion could give the appearance of a deleted papilla and give the appearance of an optic disk edema, specifically papilledema. Global optic disk assessment with all the above referred characteristics will facilitate appropriate diagnostic. On the other hand, in bilateral cases, the identification of a superior bitemporal hemianopsia could arouse suspicion about a compressive pathology at the level of the chiasma. Magnetic resonance with hypophysis study should be requested only when the bitemporal hemianopsia respects the middle line, as this papillary anomaly could be associated to congenital suprasellar tumors.<a class="elsevierStyleCrossRef" href="#bib0425">21</a>Papillary colobomaPapillary coloboma can present sporadically or as dominant autosomic. Fifty percent of papillary colobomas are bilateral and arise due to incomplete closure of the embryonic cleavage. As it can be associated to multiple systemic congenital anomalies, it is believed that the insult occurs during the 6th week of gestation.<a class="elsevierStyleCrossRef" href="#bib0430">22</a> Papillary coloboma is characterized by a large papilla with inferiorly displaced cup, preserving only the upper neuro-retinal ring (<a class="elsevierStyleCrossRef" href="#fig0030">Fig. 6</a>). It generally presents in association with colobomas in other locations of the eye such as the iris, the ciliary body, the lens and the chorioretina. These eyes are usually micro-ophthalmic. Visual acuity depends on the integrity of the papillomacular bundle and preservation of the fovea. In visual fields, non-progressive superior defects are usually observed. In some cases, spontaneous coloboma contractions have been observed and it is believed that this is due to the presence of circumferentially arranged intra-scleral smooth muscle fibers, demonstrated in histological studies.<a class="elsevierStyleCrossRef" href="#bib0355">7</a> A small percentage of cases associate cysts protruding from the optic nerve sheath and connect with the subarachnoid space. These patients can exhibit the complication of a macular and inferior serous RD which in some cases can resolve spontaneously but the majority require surgery. It is in frequent for these patients to develop regmatogenous retina detachments, in contrast with the development of chorioretinal colobomas.<elsevierMultimedia ident="fig0030"></elsevierMultimedia>Some authors include papillae with large bilateral central cups and dominant autosomic inheritance, known as “atypical congenital optic nerve colobomas” within capillary colobomas. However, other authors (includingthe present authors) use the term “displasic papilla” because it cannot be explained by a defect of the embryonic cleavage closure defect.<a class="elsevierStyleCrossRef" href="#bib0435">23</a>Papillary coloboma is generally associated to numerous systemic anomalies including the CHARGE association (coloboma, choanal atresia, cardiopathy, developmental delay and audited and congenital anomalies), Walker–Warburg syndrome, Goltz focal dermal hypoplasia, linear sebaceous nevus syndrome, Aicardi syndrome, Goldenhar syndrome, Seckel syndrome, Cornelia de Lange syndrome, Hallerman–Streiff syndrome and Krause syndrome.<a class="elsevierStyleCrossRefs" href="#bib0425">21,24</a> Recently, Denis et al.<a class="elsevierStyleCrossRef" href="#bib0445">25</a> observed in their prospective study a high incidence (86%) of cerebral anomalies in the MR of children with ocular colobomas, mainly gyration alterations.Due to the high risk of systemic associations, all papillary coloboma patients must be referred to the pediatrician for systemic assessment and, due to the above commented prospective study, cerebral MR could be also necessary.Morning glory anomalyThe morning glory anomaly is generally sporadic and unilateral. Etiopathogeny is controversial. It is proposed that it could be due to anomalous developments of the lamina cribrosa and the posterior sclera, i.e., a primary mesenchymal dysgenesia associated to altered regression of hyaloid vascularization.<a class="elsevierStyleCrossRef" href="#bib0450">26</a>Said anomaly is characterized by a large papilla with central cup having glial tissue at said level. The vessels exit the papilla radially with variable degrees of peripapillary pigmentation (<a class="elsevierStyleCrossRef" href="#fig0035">Fig. 7</a>). Contraction optic disk movements have been described as in papillary coloboma.<a class="elsevierStyleCrossRefs" href="#bib0455">27,28</a> Visual acuity is usually very impaired with values between finger counting and 0.1. According to different studies, only 17–27% of patients exhibit visual acuity values above 0.5.<a class="elsevierStyleCrossRef" href="#bib0450">26</a> As with papillary coloboma, these patients are at greater risk (26–38%) of early serous RD. In addition, they could exhibit other ocular malformations including microphthalmia, aniridia, anterior segment dysgenesia, pupil membrane persistence, PFV and retinal arteriovenous communications.<elsevierMultimedia ident="fig0035"></elsevierMultimedia>The morning glory anomaly is generally an isolated condition and does not present as a part of a multisystemic disease although it has been described in association to facial and SNC malformations. Midline anomalies such as hypertelorism, cleft palate and cleft lip have been frequently described in these patients. An additional frequent association is basal trans-sphenoid encephalocele, that consists in a neural tissue hernia through a defect in the base of the cranium that can present clinic similar to nasal polyps. In these cases, it is very important to carry out adequate differential diagnostic in order to prevent surgical manipulation. These patients could also exhibit endocrine anomalies, mainly insipid diabetes. In addition, they present cerebral vascular malformations with greater frequency than the general population. These malformations range between slights congenital variantsup to progressive internal carotid stenosis with Moyamoya disease, a cerebrovascular disease characterized by progressive stenosis/occlusion of the proximal portion of the main intracranial arteries that could cause severe neurological sequels. In addition, infant hemangioma have frequently beendescribed in these patients.When diagnosing a morning glory anomaly, cerebral MR and angio-MR must be requested to discard the above described cerebral malformations. If the neuroimaging study is suspect of the Moyamoya disease, these tests should be repeated regularly depending on patient age and severity of the observed lesions.<a class="elsevierStyleCrossRef" href="#bib0465">29</a>Peripapillary staphylomaGenerally, peripapillary staphyloma is a unilateral nonhereditary congenital anomaly. It has been postulated that it occurs due to incomplete posterior pole sclera differentiation in the 5th month of gestation, i.e., a primary scleral anomaly. Despite not being a congenital optic nerve anomaly, it is included in this review because it is frequently confused with papillary coloboma and the morning glory anomaly.Peripapillary staphyloma is characterized by a deep pit containing at the bottom an apparently normal or slightly pale papilla (<a class="elsevierStyleCrossRef" href="#fig0040">Fig. 8</a>). Visual acuity is generally very diminished although some publications have reported cases with normal vision. Other associated ocular anomalies have been described (cataracts, microphthalmia and PFV) and serous RD development during follow-up. Peripapillary staphyloma contractions have also been described.<a class="elsevierStyleCrossRef" href="#bib0470">30</a> In general, peripapillary staphyloma is not associated to other systemic or SNC malformations. Accordingly, it is not necessary to request supplementary tests for these patients, although serial ophthalmological follow-up is recommended.<a class="elsevierStyleCrossRef" href="#bib0475">31</a><elsevierMultimedia ident="fig0040"></elsevierMultimedia>Papillo-renal syndromeThe papillo-renal syndrome is a hereditary vascular dysgenesia that primarily affects ocular and renal circulation.<a class="elsevierStyleCrossRef" href="#bib0480">32</a> It is due to a mutation in PAX2 gene transmitted through dominant autosomic inheritance, although de novo mutations are not infrequent. The mutation in the PAX2 gene is identified in 50% of patients affected by this syndrome. Until a few years ago it was included within papillary colobomas but at present it is considered a completely different entity.<a class="elsevierStyleCrossRef" href="#bib0485">33</a>Generally, optic discs have normal size with a central cup but a characteristic feature is the arrangement of central retinal vessels that exit the superior and inferior optic disk pole, as well as the presence of multiple cilioretinal arteries<a class="elsevierStyleCrossRefs" href="#bib0490">34,35</a> (<a class="elsevierStyleCrossRef" href="#fig0045">Fig. 9</a>).<elsevierMultimedia ident="fig0045"></elsevierMultimedia>At the systemic level, papillo-renal syndrome patients exhibit kidney hypoplasia with a variable degree of kidney insufficiency that frequently evolves to renal failure. They could also exhibit vesicoureteral reflux and moderate neurosensory deafness.In patients with bilateral dysplasic papilla with central pit and anomalous retinal vascular tree arrangement, papillo-renal syndrome should be suspected. Renal echography and kidney function study must be requested. As this syndrome is due to dominant autosomic inheritance, it would be recommendable to request parents to undergo ocular fundus examination.Optic pitOptic pits are usually unilateral and sporadic. Even though etiopathogeny is unknown, most publications consider optic pits a variant of papillary coloboma despite some clinic evidence to the contrary. Optic pits are located in the temporal sector of the papilla and are not associated to colobomas in other ocular globe areas or to systemic anomalies, whereas papillary colobomas (as described above) can be uni- or bilateral and hereditary and are associated to colobomas in other areas of the eye and to multiple systemic anomalies.<a class="elsevierStyleCrossRefs" href="#bib0425">21,36</a>Optic pits are characterized by an oval, grayish or yellowish depression generally localized in the temporal sector of the papilla. The papilla containing the pit is generally larger than the contralateral papilla. Over 50% of cases exhibit one or 2 cilioretinal arteries (<a class="elsevierStyleCrossRef" href="#fig0050">Fig. 10</a>). Vision is normal except when macular serous RD occurs. For this reason it is essential to maintain serial follow-up of the ocular fundus, as a high percentage of cases will develop said complication, above all when the pit is in the temporal sector of the papilla.<a class="elsevierStyleCrossRef" href="#bib0505">37</a> Optic pits or dimples are not associated to other systemic or CNS malformations and therefore these patients do not require supplementary systemic tests.<elsevierMultimedia ident="fig0050"></elsevierMultimedia>MegalopapillaMegalopapilla is a sporadic and generally bilateral anomaly, characterized by a large papilla with a diameter above 2.1mm and/or an area larger than 2.5mm2 but with normal morphology, with the exception of a larger disk/cup ratio (<a class="elsevierStyleCrossRef" href="#fig0055">Fig. 11</a>). Vision is normal and the visual field shows increased blind spot. Megalopapilla is not associated to other systemic or CNS malformations, and therefore it is not necessary to request supplementary tests. However, differential diagnostic must be performed with a glaucomatous papilla, even though the large papillary diameter facilitates the differentiation of both entities.<a class="elsevierStyleCrossRef" href="#bib0425">21</a><elsevierMultimedia ident="fig0055"></elsevierMultimedia>Papillary drusenPapillary drusen appear in 0.3% of the population, bilaterally in approximately 80% of cases, although histological autopsy studies revealed higher prevalence. Papillary drusen can express sporadically or through dominant autosomic inheritance with incomplete penetrance. Etiopathogeny is not well known although the most accepted theory is that an alteration in the axoplasmic transport through a small scleral channel could lead to axonal degeneration. Electronic microscopy shows intracellular mitochondrial calcifications. Some axons could break, releasing mitochondria into the extracellular space. Calcium would continue to deposit in these mitochondria to form drusen. The latter comprise mucopolysaccharides, aminoacids, ribonucleic acids, deoxyribonucleic acid, calcium and small amounts of iron.<a class="elsevierStyleCrossRefs" href="#bib0510">38,39</a>Drusen evolve dynamically. In infants, drusen are usually buried and the nerve has a full appearance without a cup, but subsequently generally nasal excretions are observed that increase in size with calcification and become more visible at the surface, with diminished elevation of the nerve. However, 60% of drusen remained buried in adults.<a class="elsevierStyleCrossRef" href="#bib0520">40</a> In addition to said papillary morphology characteristics, retinal vessels are usually intricate and dilated, exhibiting anomalous ramifications and vascular loops. In addition, cilioretinal arteries (20–40%) and optociliar shunts (4–6%) can be observed (<a class="elsevierStyleCrossRefs" href="#fig0060">Figs. 12 and 13</a>).<elsevierMultimedia ident="fig0060"></elsevierMultimedia><elsevierMultimedia ident="fig0065"></elsevierMultimedia>When drusen are superficial, ophthalmoscopy greatly facilitates diagnostic but, when buried, supplementary imaging tests must be performed to identify them:<ul class="elsevierStyleList" id="lis0010"><li class="elsevierStyleListItem" id="lsti0035">–Mode B ocular echography is the most reliable method for detecting calcified drusen. It shows a hyper-reflective image with low gain and posterior acoustic shadow.<a class="elsevierStyleCrossRef" href="#bib0525">41</a></li><li class="elsevierStyleListItem" id="lsti0040">–Autofluorescence detects superficial drusen but can give false negatives in buried drusen cases. Therefore, it has less sensitivity than echography for detecting drusen.<a class="elsevierStyleCrossRef" href="#bib0530">42</a></li><li class="elsevierStyleListItem" id="lsti0045">–Optical coherence tomography (OCT) is very useful for assessing the loss of retina nerve fiber layer (RNFL); it has been observed that the thickness of RNFL and ganglion cell layer-internal plexiform layer are diminished in patients with papillary drusen. Whereas the use of OCT for differential diagnostic between pseudo-papilledema due to buried drusen and papillary edema is controversial,<a class="elsevierStyleCrossRefs" href="#bib0535">43–45</a> new generation OCT comprising Enhanced Depth Imaging-OCT (EDI-OCT) and Swept Source-OCT, enable the quantification of drusen size and the examination of adjacent structures integrity in the retina and optic nerve, and could be better than mode B echography and non-EDI OCT for detecting drusen.<a class="elsevierStyleCrossRefs" href="#bib0550">46–49</a></li><li class="elsevierStyleListItem" id="lsti0050">–Computerized tomography enables the identification of calcified drusen but should not be utilized for studying drusen as they could remain between 2 sections and go undetected, besides exposing patients to radiation.</li></ul>When drusen are buried, the appearance of the papilla could raise diagnostic doubts vis-à-vis papiledema. It is important to carry out adequate differential diagnostic in order to avoid requesting unnecessary systemic tests for these patients. <a class="elsevierStyleCrossRef" href="#tbl0010">Table 2</a> summarizes the ophthalmoscopic characteristics that assist in differentiating both entities. Even so, on many occasions it will be necessary to resort to the above commented imaging tests. However, it must be taken into account that drusen to not protect against the development of intracranial hypertension, which means that pseudo-papilledema due to buried drusen could coexist with papiledema in the same patients, complicating diagnostic even more.<a class="elsevierStyleCrossRef" href="#bib0570">50</a><elsevierMultimedia ident="tbl0010"></elsevierMultimedia>The presence of papillary drusen, mainly the superficial type, has been associated to campimetric defects, but the mechanism through which drusen produce said complications is not well known. Campimetric defects appear in the first two decades of life and exhibit progression in extension and prevalence with age. Lee et al.<a class="elsevierStyleCrossRef" href="#bib0575">51</a> detected a visual field loss progression rate of 1.6% per year during the follow-up of 36 months. In addition, they observed that patients with minimum visual field loss or without campimetric defects were younger than those with moderate or severe visual field deterioration. Wilkins et al.<a class="elsevierStyleCrossRef" href="#bib0580">52</a> observed that superficial drusen associated campimetric defects with higher frequency than buried drusen (73% vs 36%). Studies carried out in pediatric populations have also observed that drusen are associated to campimetric defects, more frequently so when drusen are superficial.<a class="elsevierStyleCrossRef" href="#bib0585">53</a> Most frequently described campimetric alterations are defects in the inferior nasal quadrant, blind spot increase, peripheral contraction and arcuate defects.Optic nerve drusen are related with vaso-occlusive occurrences such as non-arteritic anterior ischemic optic neuropathy (NAION) and occlusion of the central retinal vein and artery. Patients with papillary drusen who develop NAION exhibit similar characteristics to patients with NAION without drusen in what concerns the prevalence of risk factors, campimetric pattern and contralateral eye involvement. However, patients with drusen are younger, frequently exhibit temporary visual darkening episodes prior to systemic involvement and generally have better visual prognosis than NAION patients without drusen.<a class="elsevierStyleCrossRef" href="#bib0590">54</a> Drusen have also been associated to the development of neovascular membranes adjacent to the optic disk. Duncan et al.<a class="elsevierStyleCrossRef" href="#bib0595">55</a> detected 24.5% in a study carried out with EDI-OCT in children. They only need to be treated if affecting central vision, as they generally regress spontaneously. In contrast, retinal hemorrhages without subretinal neovascularization have been described in 2–10% of cases. Some mechanisms for explaining these hemorrhages are the erosion of nerve and vessels by the drusen, congestion and venous stasis, retinociliar venous communications and ischemia.<a class="elsevierStyleCrossRef" href="#bib0600">56</a>The majority of patients are asymptomatic and exhibit good visual acuity without being aware of their campimetric defects because they progress very slowly. Severe and sudden visual field losses are usually secondary to vascular complications, although they have been described in exclusive association to drusen due to compression mechanisms, without signs of associated vascular involvement.Pigment retinosis, the Alagille syndrome, elastic pseudoxanthoma and angioid striations present papillary drusen with greater frequency than the general population.<a class="elsevierStyleCrossRefs" href="#bib0515">39,57–59</a>There is no treatment for papillary drusen, although it is recommended to prescribe topical anti-hypertensive treatment if campimetric defects progress or are very extensive.Patients with drusen not require supplementary systemic examinations as it is an isolated ocular pathology. However, it is important to carry out serial ophthalmological follow-up due to the possible appearance of campimetric defects and associated vaso-occlusive complications.Presence of myelin fibersThe presence of myelin fibers is found in less than 1% of the population and generally in a sporadic manner. Despite being a congenital anomaly that remains stable, in some cases it can be acquired, it could progress or even disappear after a range of retinal pathologies (venous retinal occlusion, chronic glaucoma, etc.) or after retinal laser treatment. Whereas the congenital presence of myelin fibers is generally a unilateral anomaly, acquired myelin fibers during infancy are usually bilateral.Optic pathway myelinization begins in the lateral geniculate body during the 5th month of gestation and terminates in the lamina cribrosa at the end of gestation or shortly thereafter, which means that retinal nerve fibers are not myelinized as in normal conditions. Pathogeny of the presence of congenital myelin fibers is not entirely known, but it is postulated that events altering the integrity of the lamina cribrosa or an imbalance between the formation thereof (which develops from the limbus) and the myelinization process which, as discussed above, is formed in the geniculate body, would enable the entry of oligodendrocytes into the ocular globe. Oligodendrocytes are the cells in charge of forming the myelin sheath in the CNS. The 2nd mechanism seems more feasible in myopic patients due to having larger eyes.<a class="elsevierStyleCrossRef" href="#bib0620">60</a> In what concerns the myelin fibers acquired during infancy, it is postulated that this could be due to a disruption of the lamina cribrosa associated to a lesion in the optic nerve, as it has been described in patients with intracranial hypertension, presence of drusen or glioma in the optic nerve.<a class="elsevierStyleCrossRefs" href="#bib0625">61,62</a>The presence of myelin fibers is characterized by white and irregular plates that darken the details of the retina (<a class="elsevierStyleCrossRef" href="#fig0070">Fig. 14</a>). They are generally arranged around the optic disk but can appear at a distance. In most occasions, these fibers do not produce vision alterations and are diagnosed casually during ophthalmological examinations. However, in some cases myelin fibers are associated with myopic anisometropia, amblyopia and strabismus. The presence of myelin fibers is frequently an isolated ocular anomaly. Even so, it has been associated to other ocular alterations such as epiretinal membranes, venous branch occlusions and recurring vitreous hemorrhages, as well as the Gorlin syndrome.<a class="elsevierStyleCrossRefs" href="#bib0620">60,63,64</a><elsevierMultimedia ident="fig0070"></elsevierMultimedia>When the presence of myelin fibers is detected, it is important to perform refraction under cycloplegia to discard anisometropia and correct the refraction defect, and begin occlusions at an early stage. Supplementary systemic examinations are not indicated.ConclusionsCongenital optic disk anomalies comprise a heterogeneous group of entities with unique ophthalmoscopic characteristics which should be well known in order to prepare adequate differential diagnostics and accordingly to request necessary supplementary examinations and indicate appropriate follow-up. <a class="elsevierStyleCrossRef" href="#tbl0015">Table 3</a> summarizes the supplementary tests recommended for each of said anomalies. As regards papillary drusen, it is very important to elaborate a differential diagnostic with papiledema in order to avoid subjecting the patients to unnecessary and painful tests.<elsevierMultimedia ident="tbl0015"></elsevierMultimedia>Conflict of interestNo conflict of interest was declared by the authors." "textoCompletoSecciones" => array:1 [ "secciones" => array:19 [ 0 => array:3 [ "identificador" => "xres764834" "titulo" => "Abstract" "secciones" => array:4 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Objective" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Methods" ] 2 => array:2 [ "identificador" => "abst0015" "titulo" => "Results" ] 3 => array:2 [ "identificador" => "abst0020" "titulo" => "Conclusions" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec766263" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres764833" "titulo" => "Resumen" "secciones" => array:4 [ 0 => array:2 [ "identificador" => "abst0025" "titulo" => "Objetivo" ] 1 => array:2 [ "identificador" => "abst0030" "titulo" => "Métodos" ] 2 => array:2 [ "identificador" => "abst0035" "titulo" => "Resultados" ] 3 => array:2 [ "identificador" => "abst0040" "titulo" => "Conclusiones" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec766264" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Optic nerve aplasia" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Optic nerve hypoplasia" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Tilted optic disk" ] 8 => array:2 [ "identificador" => "sec0025" "titulo" => "Papillary coloboma" ] 9 => array:2 [ "identificador" => "sec0030" "titulo" => "Morning glory anomaly" ] 10 => array:2 [ "identificador" => "sec0035" "titulo" => "Peripapillary staphyloma" ] 11 => array:2 [ "identificador" => "sec0040" "titulo" => "Papillo-renal syndrome" ] 12 => array:2 [ "identificador" => "sec0045" "titulo" => "Optic pit" ] 13 => array:2 [ "identificador" => "sec0050" "titulo" => "Megalopapilla" ] 14 => array:2 [ "identificador" => "sec0055" "titulo" => "Papillary drusen" ] 15 => array:2 [ "identificador" => "sec0060" "titulo" => "Presence of myelin fibers" ] 16 => array:2 [ "identificador" => "sec0065" "titulo" => "Conclusions" ] 17 => array:2 [ "identificador" => "sec0070" "titulo" => "Conflict of interest" ] 18 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2016-04-17" "fechaAceptado" => "2016-05-30" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec766263" "palabras" => array:6 [ 0 => "Optic nerve" 1 => "Congenital" 2 => "Hypoplasia" 3 => "Coloboma" 4 => "Optic disk drusen" 5 => "Myelinated nerve fibers" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec766264" "palabras" => array:6 [ 0 => "Nervio óptico" 1 => "Congénito" 2 => "Hipoplasia" 3 => "Coloboma" 4 => "Drusas de la papila" 5 => "Presencia de fibras de mielina" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:3 [ "titulo" => "Abstract" "resumen" => "ObjectiveTo update the current knowledge about congenital optic disk anomalies. MethodsA comprehensive literature search was performed in the major biomedical databases. ResultsPatients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disk anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. ConclusionsCongenital optic disk anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up." "secciones" => array:4 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Objective" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Methods" ] 2 => array:2 [ "identificador" => "abst0015" "titulo" => "Results" ] 3 => array:2 [ "identificador" => "abst0020" "titulo" => "Conclusions" ] ] ] "es" => array:3 [ "titulo" => "Resumen" "resumen" => "ObjetivoRevisar y actualizar la bibliografía existente sobre las anomalías congénitas y del desarrollo del nervio óptico. MétodosSe ha realizado una búsqueda exhaustiva de la bibliografía en las principales bases de datos biomédicas. ResultadosLos pacientes suelen presentarse en la infancia con baja visión. Los defectos de refracción son frecuentes y algunas de ellas pueden desarrollar un desprendimiento de retina seroso. Sobre todo, es imprescindible realizar un correcto diagnóstico diferencial dado que algunas asocian malformaciones del sistema nervioso central, mientras que otras se presentan asociadas a malformaciones sistémicas. ConclusionesLas anomalías congénitas del nervio óptico incluyen un grupo heterogéneo de entidades con unas características oftalmoscópicas singulares y asociaciones sistémicas frecuentes. Un diagnóstico correcto permitirá solicitar las exploraciones complementarias necesarias e indicar un seguimiento adecuado a estos pacientes." "secciones" => array:4 [ 0 => array:2 [ "identificador" => "abst0025" "titulo" => "Objetivo" ] 1 => array:2 [ "identificador" => "abst0030" "titulo" => "Métodos" ] 2 => array:2 [ "identificador" => "abst0035" "titulo" => "Resultados" ] 3 => array:2 [ "identificador" => "abst0040" "titulo" => "Conclusiones" ] ] ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "Please cite this article as: Martín-Begué N, Saint-Gerons M. Anomalías congénitas y del desarrollo del nervio óptico. Arch Soc Esp Oftalmol. 2016;91:577–588." ] ] "multimedia" => array:17 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1137 "Ancho" => 900 "Tamanyo" => 78137 ] ] "descripcion" => array:1 [ "en" => "Optic nerve aplasia. Only choroidal vessels can be observed, but papilla or central retinal vessels cannot be clearly seen." ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1135 "Ancho" => 900 "Tamanyo" => 60340 ] ] "descripcion" => array:1 [ "en" => "Cerebral MR of bilateral optic nerve aplasia. Coronal MR section does not show optic nerve. Infrequently, this case did not associate other cerebral malformations." ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 675 "Ancho" => 900 "Tamanyo" => 77111 ] ] "descripcion" => array:1 [ "en" => "Optic nerve hypoplasia with small papilla, showing a small papilla with the double ring sign (hypopigmented ring surrounding the papilla)." ] ] 3 => array:7 [ "identificador" => "fig0020" "etiqueta" => "Fig. 4" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr4.jpeg" "Alto" => 862 "Ancho" => 900 "Tamanyo" => 86425 ] ] "descripcion" => array:1 [ "en" => "Optic nerve hypoplasia with normal size papilla, showing papilla with normal size and large cup." ] ] 4 => array:7 [ "identificador" => "fig0025" "etiqueta" => "Fig. 5" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr5.jpeg" "Alto" => 870 "Ancho" => 900 "Tamanyo" => 88914 ] ] "descripcion" => array:1 [ "en" => "Tilted optic disk, showing oval papilla with oblique long axis with the presence of inferonasal crescent." ] ] 5 => array:7 [ "identificador" => "fig0030" "etiqueta" => "Fig. 6" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr6.jpeg" "Alto" => 675 "Ancho" => 900 "Tamanyo" => 89540 ] ] "descripcion" => array:1 [ "en" => "Papillary coloboma, showing larger papilla with downwardly displaced cup. Only the superior neuroretinal ring is preserved." ] ] 6 => array:7 [ "identificador" => "fig0035" "etiqueta" => "Fig. 7" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr7.jpeg" "Alto" => 1005 "Ancho" => 900 "Tamanyo" => 92663 ] ] "descripcion" => array:1 [ "en" => "Morning glory anomaly, showing large papilla with central glial tissue, radiant distribution of retinal vessels and peripapillary hyperpigmentation." ] ] 7 => array:7 [ "identificador" => "fig0040" "etiqueta" => "Fig. 8" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr8.jpeg" "Alto" => 887 "Ancho" => 900 "Tamanyo" => 71257 ] ] "descripcion" => array:1 [ "en" => "Peripapillary staphyloma, with apparently normal papilla at the bottom of a pit. Retinal vessels can be seen curved at the edge of the pit." ] ] 8 => array:7 [ "identificador" => "fig0045" "etiqueta" => "Fig. 9" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr9.jpeg" "Alto" => 882 "Ancho" => 900 "Tamanyo" => 101437 ] ] "descripcion" => array:1 [ "en" => "Papillo-renal syndrome, showing papilla with normal size exhibiting central pit and anomalous retinal vessel arrangements emerging from the superior period and inferior pole of the papilla." ] ] 9 => array:7 [ "identificador" => "fig0050" "etiqueta" => "Fig. 10" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr10.jpeg" "Alto" => 896 "Ancho" => 900 "Tamanyo" => 79071 ] ] "descripcion" => array:1 [ "en" => "Optic pit, with grayish oval-shaped dimple in temporal sector of the papilla." ] ] 10 => array:7 [ "identificador" => "fig0055" "etiqueta" => "Fig. 11" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr11.jpeg" "Alto" => 896 "Ancho" => 900 "Tamanyo" => 100219 ] ] "descripcion" => array:1 [ "en" => "Megalopapilla, large papilla with increased cup/disco ratio." ] ] 11 => array:7 [ "identificador" => "fig0060" "etiqueta" => "Fig. 12" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr12.jpeg" "Alto" => 675 "Ancho" => 900 "Tamanyo" => 88656 ] ] "descripcion" => array:1 [ "en" => "Buried papillary drusen, filled-in and elevated papilla without pit." ] ] 12 => array:7 [ "identificador" => "fig0065" "etiqueta" => "Fig. 13" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr13.jpeg" "Alto" => 920 "Ancho" => 900 "Tamanyo" => 83696 ] ] "descripcion" => array:1 [ "en" => "Superficial papillary drusen, showing filled-in and elevated papilla without cup with excrescences located mainly in the nasal edge of the papilla, corresponding to drusen." ] ] 13 => array:7 [ "identificador" => "fig0070" "etiqueta" => "Fig. 14" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr14.jpeg" "Alto" => 675 "Ancho" => 900 "Tamanyo" => 76871 ] ] "descripcion" => array:1 [ "en" => "Presence of myelin fibers. Whitish, uneven plates arranged around the papilla and throughout the superior temporal arc of the right eye, hiding retinal vessels." ] ] 14 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at1" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><tbody title="tbody"><tr title="table-row"><td class="td" title="table-entry " rowspan="3" align="left" valign="top">Morphological anomalies morfología</td><td class="td" title="table-entry " align="left" valign="top">Optic nerve aplasia \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Optic nerve hypoplasia \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Oblique optic disk \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry " rowspan="6" align="left" valign="top">Cup anomalies</td><td class="td" title="table-entry " align="left" valign="top">Papillar coloboma \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Morning glory anomaly \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Peripapillary staphyloma \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Papillo-renal syndrome \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Optic pit \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Megalopapilla \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry " rowspan="2" align="left" valign="top">Abnormal tissue in disk</td><td class="td" title="table-entry " align="left" valign="top">Papillary drusen \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Presence of myelin fibers \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1264189.png" ] ] ] ] "descripcion" => array:1 [ "en" => "Classification of congenital and developmental optic nerve anomalies." ] ] 15 => array:8 [ "identificador" => "tbl0010" "etiqueta" => "Table 2" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at2" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Incipient papilledema \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="center" valign="top" scope="col" style="border-bottom: 2px solid black">Pseudo-papiledema due to buried drusen \t\t\t\t\t\t\n \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Los of cup only in moderate or severe cases \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Small disks without cup \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Elevation extends to the peripapillary retina \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Elevation only affects the papilla \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Vessels on the margin of the nerve not visible \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Vessels visible on the margin of the nerve \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Vascular ramification with normal configuration \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Abnormal vascular ramification patterns \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Venous ingurgitation \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No venous ingurgitation \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Exudates \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No exudates \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Absence of spontaneous venous pulse \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Venous pulse can be present or absent \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1264190.png" ] ] ] ] "descripcion" => array:1 [ "en" => "Differential diagnostic between incipient papiledema and pseudo-papilledema due to drusen." ] ] 16 => array:8 [ "identificador" => "tbl0015" "etiqueta" => "Table 3" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at3" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:2 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Congenital anomaly \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="center" valign="top" scope="col" style="border-bottom: 2px solid black">Systemic study \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="center" valign="top" scope="col" style="border-bottom: 2px solid black">Cerebral MR \t\t\t\t\t\t\n \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Optic nerve aplasia \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes (bilateral anomaly) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="3" align="left" valign="top"></td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="3" align="left" valign="top">Optic nerve hypoplasia</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Small disk \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Endocrinology study<a class="elsevierStyleCrossRef" href="#tblfn0005">a</a> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes (uni- and bilateral anomaly) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Normal disk/large cup \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="3" align="left" valign="top"></td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Tilted optic disk \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Papillary coloboma \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Morning glory anomaly \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes (MR and angio-MR) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Peripapillary staphyloma \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Papillo-renal syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Abdominal echography \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Optic pit \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Megalopapilla \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Papillary drusen \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Presence of myelin fibers \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1264191.png" ] ] ] "notaPie" => array:1 [ 0 => array:3 [ "identificador" => "tblfn0005" "etiqueta" => "a" "nota" => "Recommended above all if neuroimaging study reveals hypophysis alteration." ] ] ] "descripcion" => array:1 [ "en" => "Supplementary studies according to detected optic nerve anomaly." ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:64 [ 0 => array:3 [ "identificador" => "bib0325" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "N. Jain" 1 => "M.W. Johnson" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.ajo.2014.06.001" "Revista" => array:6 [ "tituloSerie" => "Am J Ophthalmol" "fecha" => "2014" "volumen" => "158" "paginaInicial" => "423" "paginaFinal" => "435" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24932988" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0330" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Optic nerve aplasia" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "C.E. Margo" 1 => "L.M. Hamed" 2 => "E. Fang" 3 => "W.W. 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Review

Congenital optic nerve anomalies

Anomalías congénitas y del desarrollo del nervio óptico

N. Martín-Beguéa,

Corresponding author

nmartin@vhebron.net

Corresponding author.

, M. Saint-Geronsb

a Unidad de Oftalmología Pediátrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain

b Servicio de Oftalmología, Hospital Mútua de Terrassa, Terrassa, Barcelona, Spain

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          "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Optic nerve aplasia&#46; Only choroidal vessels can be observed&#44; but papilla or central retinal vessels cannot be clearly seen&#46;</p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Congenital and developmental optic nerve anomalies comprise a heterogeneous group that has been classified on the basis of morphology&#44; cup shape and presence of an anomalous tissue at the optic disk level &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>&#41;&#46; The majority of these anomalies exhibit common general characteristics&#44; and are summarized below&#58;<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">&#8211;</span><p id="par0010" class="elsevierStylePara elsevierViewall">Some of these anomalies &#40;optic nerve aplasia&#44; papillary coloboma&#44; morning glory anomaly and peripapillary staphyloma&#41; produce diminished vision&#44; nystagmus or strabismus&#46; In general&#44; bilateral cases express early with poor vision and nystagmus while unilateral anomalies express later with sensory strabismus&#46; Other anomalies such as the optic dimple&#44; megalopapilla and papillary drusen exhibit normal vision unless associating complications&#46;</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">&#8211;</span><p id="par0015" class="elsevierStylePara elsevierViewall">Color vision is generally preserved&#44; which does not occur in acquired optic neuropathies&#46;</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">&#8211;</span><p id="par0020" class="elsevierStylePara elsevierViewall">Refraction defects are very frequent&#44; making it important to submit all patients to refraction under cycloplegia&#46;</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">&#8211;</span><p id="par0025" class="elsevierStylePara elsevierViewall">It has been confirmed that bilateral cases present better vision than unilateral ones&#44; recommending the prescription of occlusions in unilateral cases for treating the associated amblyopia component&#46;</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">&#8211;</span><p id="par0030" class="elsevierStylePara elsevierViewall">Serous retina detachment &#40;RD&#41; has been described in over 50&#37; of patients with papillary coloboma&#44; morning glory anomaly and optic dimple&#46; It has been proposed that these anomalies exhibit architectural alterations in the critical area where the optic nerve exits the ocular globe that produce a connection between the vitreous&#44; the subretinal and subarachnoid space and possibly the orbit space&#44; which would facilitate the development of RD&#46; The origin of the subretinal fluid is controversial but it is believed it arises out of the vitreous cavity and the subarachnoid space&#46;<a class="elsevierStyleCrossRef" href="#bib0325"><span class="elsevierStyleSup">1</span></a> For this reason&#44; it is necessary to maintain serial follow-up of the ocular fundus to establish an early diagnostic of this complication that would worsen the visual prognostic of these patients&#46; It is also recommendable to carry out eyesight assessments weekly in order to detect this complication at the earliest stage&#46; In small children&#44; parents should be requested to occlude the healthy eye or both eyes alternately &#40;in bilateral involvement&#41; and observe any changes in the visual behavior of the child&#46;</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">&#8211;</span><p id="par0035" class="elsevierStylePara elsevierViewall">In addition to the above&#44; it must not he forgotten that many of these anomalies can be associated with systemic and&#47;or central nervous system &#40;SNC&#41; malformations&#46; Accordingly&#44; supplementary examinations should be requested on an individual basis&#46;</p></li></ul></p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Optic nerve aplasia</span><p id="par0040" class="elsevierStylePara elsevierViewall">Optic nerve aplasia is a rare&#44; non-hereditary and usually unilateral &#40;80&#37;&#41; anomaly&#44; characterized by the congenital absence of optic nerve fibers&#44; retinal ganglion cells &#40;RGC&#41; and central retinal vessels&#46; The etiopathogeny of optic nerve aplasia is unknown but several theories have been proposed&#44; including defects in RGC formation&#44; problems in retinal development and angiogenesis&#44; embryo groove malformation or mesenchymal failure&#46;<a class="elsevierStyleCrossRef" href="#bib0330"><span class="elsevierStyleSup">2</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Ocular fundus appearance can range between inability to identify the papilla and observing a whitish area or deep cup in the place of the papilla&#44; but in all cases associated to the absence of the central retina vessels &#40;<a class="elsevierStyleCrossRefs" href="#fig0005">Figs&#46; 1 and 2</a>&#41;&#46; Vision is of no perception of light and the photomotor reflex is abolished&#46; This can be due to an isolated ocular malformation but it is usually associated to other ocular congenital anomalies &#40;microphthalmia&#44; sclerocornea&#44; anterior segment dysgenesia&#44; corneal edema&#44; persistence of the tunica vasculosa lentis&#44; iris anomalies&#44; cataract&#44; persistent feet and vascularization &#91;PFV&#93; or retinal displasia&#41; or it can be related to SNC malformations&#46; The unilateral forms are generally associated to normal cerebral development whereas the bilateral form exhibits associations with cerebral malformations&#58; ectopic neurohypophysis&#44; hydranencephaly&#44; orbital meningoencephalocele&#44; anencephalia&#44; etc&#46;<a class="elsevierStyleCrossRef" href="#bib0335"><span class="elsevierStyleSup">3</span></a> In addition&#44; cardiovascular&#44; gastrointestinal and vertebral anomalies have been described in these patients&#46;<a class="elsevierStyleCrossRef" href="#bib0340"><span class="elsevierStyleSup">4</span></a> Accordingly&#44; <span class="elsevierStyleItalic">it is recommended to request a cerebral magnetic resonance &#40;MR&#41; if the optic nerve aplasia is bilateral&#46;</span></p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Optic nerve hypoplasia</span><p id="par0050" class="elsevierStylePara elsevierViewall">Optic nerve hypoplasia is the most frequent congenital optic nerve anomaly&#46; It presents sporadically and bilaterally in 70&#37; of cases and is characterized by a lower number of optic fibers&#46; The appearance of the papilla will depend on the time at which the immature visual system is insulted&#46; If the lesion occurs before gestation week 28 when the supporting structures &#40;sclera&#44; pia&#44; dura and lamina cribrosa&#41; are immature&#44; the result will be a small papilla &#40;between half and one third of the normal size&#41; usually accompanied by retina vessel tortuosity and a hypo-pigmentation ring surrounding the optic disk known as the double ring sign &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; Whereas&#44; if the lesion occurs in the 3rd quarter of gestation&#44; when the support structures are mature&#44; the result would be a normal size and papilla but with a large dimple&#46; The latter morphology is observed in premature children with periventricular leukomalacia acquired in the late stages of gestation&#44; which produces a bilateral lesion of the optic radiations with retrograde trans-synaptic degeneration of the retinogeniculate axons<a class="elsevierStyleCrossRefs" href="#bib0345"><span class="elsevierStyleSup">5&#8211;7</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>&#41;&#46; In other cases&#44; a superior segment hypoplasia is observed&#44; known as &#8220;topless optic disk&#8221;&#44; characterized by a thinned superior neuro-retinal ring&#44; pallor in the superior portion of the optic disk and a scleral halo at the same level&#46; This has been described in children of diabetes type I mothers&#46;<a class="elsevierStyleCrossRef" href="#bib0360"><span class="elsevierStyleSup">8</span></a></p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia><p id="par0055" class="elsevierStylePara elsevierViewall">Focusing on optic nerve hypoplasia with small papilla&#44; i&#46;e&#46;&#44; the most frequent case&#44; the only risk factors that have demonstrated clear association with development are the young age of the mother and being the first child&#46;<a class="elsevierStyleCrossRef" href="#bib0365"><span class="elsevierStyleSup">9</span></a> Vision can range between 1 and no perception of light&#44; without clear correlation with the overall size of the papilla&#46; However&#44; 75&#8211;80&#37; of bilateral cases are legally blind&#44; making this pathology an important cause of blindness and cerebral visual deficiency&#46;<a class="elsevierStyleCrossRefs" href="#bib0370"><span class="elsevierStyleSup">10&#44;11</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Both in unilateral and bilateral anomalies&#44; patients with optic nerve hypoplasia and small optic discs usually present associated cerebral malformations&#46; The most frequent anomalies are the absence of the septum pellucidum &#40;51&#37;&#41;&#44; corpus callosum hypoplasia&#44; migration anomalies &#40;schizencephaly or gray matter heterotopia&#41; and hypophysis anomalies &#40;empty <span class="elsevierStyleItalic">sella turca</span>&#44; neurohypophysis agenesia or ectopia and infundibulum absence&#41;&#46; In addition&#44; endocrinologic deficits have been described due to involvement of the hypothalamus-hypophysis axis in a high percentage of these patients&#58; growth hormone deficit &#40;70&#37;&#41;&#44; hypothyroidism &#40;43&#37;&#41;&#44; adrenal insufficiency &#40;27&#37;&#41;&#44; hyperprolactinemia &#40;62&#37;&#41;&#44; among others&#46;<a class="elsevierStyleCrossRef" href="#bib0380"><span class="elsevierStyleSup">12</span></a> It should be borne in mind that even though the study of hypophysis function gives normal results&#44; the possibility of these patients develop endocrine disorders in the future cannot be discarded&#46;<a class="elsevierStyleCrossRef" href="#bib0385"><span class="elsevierStyleSup">13</span></a> Hypophysis alteration in MR is the main factor associated to the presence of hypopituitarism&#46; Ramakrishnaiah et al&#46;<a class="elsevierStyleCrossRef" href="#bib0390"><span class="elsevierStyleSup">14</span></a> reported that hypophysis alterations in MR have 96&#37; sensitivity and 92&#37; specificity for detecting hypopituitarism in these patients&#46; The endocrinological study should comprise&#58; morning glucose and cortisol on an empty stomach&#44; thyrotropin&#44; free thyroxine&#44; insulin growth factor type 1 and insulin-like growth factor binding protein 3&#46; In infants under 6 months luteinizing hormone&#44; follicle-stimulating hormone and&#47;or testosterone should also be included&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">Until a few years ago it was considered important to discard the presence of septo-optic dysplasia or Morsier syndrome due to the frequent association between hypopituitarism and the absence of the <span class="elsevierStyleItalic">septum pellucidum</span> in these patients&#44; although recent studies indicate that both are independent entities&#46;<a class="elsevierStyleCrossRefs" href="#bib0385"><span class="elsevierStyleSup">13&#44;15</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">With any patient exhibiting uni-or bilateral optic nerve hypoplasia with small optic disk it is crucial to request cerebral MR to discard the above cerebral malformations&#46; The authors believe that the endocrinological study would be necessary only when neuroimaging shows hypophysis alterations&#44; although the literature continues to recommend requesting it for all patients&#46;</span></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Tilted optic disk</span><p id="par0075" class="elsevierStylePara elsevierViewall">Tilted optic disk appears in one-2&#37; of the population&#44; being sporadic and bilateral in 80&#37; of cases&#46;<a class="elsevierStyleCrossRef" href="#bib0400"><span class="elsevierStyleSup">16</span></a> It is believed that the appearance of the papilla is because the optic nerve penetrates the eye at an oblique angle while presenting rotation along the antero-posterior axis and the inferior crescent would be due to the disparity between retinal and scleral opening&#46; Oblique optic disk pathogeny is uncertain although it could occur due to failed embryo cleft closure&#44; as in the case of colobomas&#46;<a class="elsevierStyleCrossRef" href="#bib0405"><span class="elsevierStyleSup">17</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">Tilted optic disk is characterized by an exaggeratedly oval-shaped&#44; with one half of the disk higher than the contralateral half&#46; It is frequent to observe a superotemporal elevation of the optic disk while the inferonasal area is posteriorly displaced&#44; producing an oblique appearance of the papilla associated to an inferonasal crescent &#40;<a class="elsevierStyleCrossRef" href="#fig0025">Fig&#46; 5</a>&#41;&#46; Other frequent ophthalmoscopic findings include peripapillary atrophy&#44; posterior staphyloma&#44; chorioretinal thinning and <span class="elsevierStyleItalic">situs inversus</span> &#40;vessels exit through the nasal side of the papilla and subsequently curve inwardly toward the temporal ocular globe area&#41;&#46;</p><elsevierMultimedia ident="fig0025"></elsevierMultimedia><p id="par0085" class="elsevierStylePara elsevierViewall">Visual acuity is usually diminished and color vision altered in a high percentage of cases&#46; Tilted optic disk is very frequently associated to myopia and astigmatism&#44; with the positive axis oriented in parallel to the ectasia&#44; with a correlation between the degree of astigmatism and papillary morphology so that higher astigmatism is proportional to the tilt of the papilla&#46;<a class="elsevierStyleCrossRef" href="#bib0410"><span class="elsevierStyleSup">18</span></a> In addition&#44; these patients could exhibit campimetric defects&#44; predominantly located in the superior temporal quadrant without respecting the vertical meridian&#46; Other visual field findings observed in these patients are arcuate defects&#44; enlarged blind spots and visual field contraction&#46;<a class="elsevierStyleCrossRefs" href="#bib0415"><span class="elsevierStyleSup">19&#44;20</span></a> These campimetric defects are usually relative&#44; nonprogressive and are usually resolved utilizing larger stimulus size or after optical correction&#46; Visual field defects have been correlated with the refractive defect degree and with inferonasal ectasia&#46;</p><p id="par0090" class="elsevierStylePara elsevierViewall">It is important to identify said anomaly to differentiate it from other pathologies that cause progressive loss of vision&#46; On the one hand the configuration of the disk with a raised portion could give the appearance of a deleted papilla and give the appearance of an optic disk edema&#44; specifically papilledema&#46; Global optic disk assessment with all the above referred characteristics will facilitate appropriate diagnostic&#46; On the other hand&#44; in bilateral cases&#44; the identification of a superior bitemporal hemianopsia could arouse suspicion about a compressive pathology at the level of the chiasma&#46; <span class="elsevierStyleItalic">Magnetic resonance with hypophysis study should be requested only when the bitemporal hemianopsia respects the middle line</span>&#44; as this papillary anomaly could be associated to congenital suprasellar tumors&#46;<a class="elsevierStyleCrossRef" href="#bib0425"><span class="elsevierStyleSup">21</span></a></p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">Papillary coloboma</span><p id="par0095" class="elsevierStylePara elsevierViewall">Papillary coloboma can present sporadically or as dominant autosomic&#46; Fifty percent of papillary colobomas are bilateral and arise due to incomplete closure of the embryonic cleavage&#46; As it can be associated to multiple systemic congenital anomalies&#44; it is believed that the insult occurs during the 6th week of gestation&#46;<a class="elsevierStyleCrossRef" href="#bib0430"><span class="elsevierStyleSup">22</span></a> Papillary coloboma is characterized by a large papilla with inferiorly displaced cup&#44; preserving only the upper neuro-retinal ring &#40;<a class="elsevierStyleCrossRef" href="#fig0030">Fig&#46; 6</a>&#41;&#46; It generally presents in association with colobomas in other locations of the eye such as the iris&#44; the ciliary body&#44; the lens and the chorioretina&#46; These eyes are usually micro-ophthalmic&#46; Visual acuity depends on the integrity of the papillomacular bundle and preservation of the fovea&#46; In visual fields&#44; non-progressive superior defects are usually observed&#46; In some cases&#44; spontaneous coloboma contractions have been observed and it is believed that this is due to the presence of circumferentially arranged intra-scleral smooth muscle fibers&#44; demonstrated in histological studies&#46;<a class="elsevierStyleCrossRef" href="#bib0355"><span class="elsevierStyleSup">7</span></a> A small percentage of cases associate cysts protruding from the optic nerve sheath and connect with the subarachnoid space&#46; These patients can exhibit the complication of a macular and inferior serous RD which in some cases can resolve spontaneously but the majority require surgery&#46; It is in frequent for these patients to develop regmatogenous retina detachments&#44; in contrast with the development of chorioretinal colobomas&#46;</p><elsevierMultimedia ident="fig0030"></elsevierMultimedia><p id="par0100" class="elsevierStylePara elsevierViewall">Some authors include papillae with large bilateral central cups and dominant autosomic inheritance&#44; known as &#8220;atypical congenital optic nerve colobomas&#8221; within capillary colobomas&#46; However&#44; other authors &#40;includingthe present authors&#41; use the term &#8220;displasic papilla&#8221; because it cannot be explained by a defect of the embryonic cleavage closure defect&#46;<a class="elsevierStyleCrossRef" href="#bib0435"><span class="elsevierStyleSup">23</span></a></p><p id="par0105" class="elsevierStylePara elsevierViewall">Papillary coloboma is generally associated to numerous systemic anomalies including the CHARGE association &#40;coloboma&#44; choanal atresia&#44; cardiopathy&#44; developmental delay and audited and congenital anomalies&#41;&#44; Walker&#8211;Warburg syndrome&#44; Goltz focal dermal hypoplasia&#44; linear sebaceous nevus syndrome&#44; Aicardi syndrome&#44; Goldenhar syndrome&#44; Seckel syndrome&#44; Cornelia de Lange syndrome&#44; Hallerman&#8211;Streiff syndrome and Krause syndrome&#46;<a class="elsevierStyleCrossRefs" href="#bib0425"><span class="elsevierStyleSup">21&#44;24</span></a> Recently&#44; Denis et al&#46;<a class="elsevierStyleCrossRef" href="#bib0445"><span class="elsevierStyleSup">25</span></a> observed in their prospective study a high incidence &#40;86&#37;&#41; of cerebral anomalies in the MR of children with ocular colobomas&#44; mainly gyration alterations&#46;</p><p id="par0110" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Due to the high risk of systemic associations&#44; all papillary coloboma patients must be referred to the pediatrician for systemic assessment and&#44; due to the above commented prospective study&#44; cerebral MR could be also necessary&#46;</span></p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Morning glory anomaly</span><p id="par0115" class="elsevierStylePara elsevierViewall">The morning glory anomaly is generally sporadic and unilateral&#46; Etiopathogeny is controversial&#46; It is proposed that it could be due to anomalous developments of the lamina cribrosa and the posterior sclera&#44; i&#46;e&#46;&#44; a primary mesenchymal dysgenesia associated to altered regression of hyaloid vascularization&#46;<a class="elsevierStyleCrossRef" href="#bib0450"><span class="elsevierStyleSup">26</span></a></p><p id="par0120" class="elsevierStylePara elsevierViewall">Said anomaly is characterized by a large papilla with central cup having glial tissue at said level&#46; The vessels exit the papilla radially with variable degrees of peripapillary pigmentation &#40;<a class="elsevierStyleCrossRef" href="#fig0035">Fig&#46; 7</a>&#41;&#46; Contraction optic disk movements have been described as in papillary coloboma&#46;<a class="elsevierStyleCrossRefs" href="#bib0455"><span class="elsevierStyleSup">27&#44;28</span></a> Visual acuity is usually very impaired with values between finger counting and 0&#46;1&#46; According to different studies&#44; only 17&#8211;27&#37; of patients exhibit visual acuity values above 0&#46;5&#46;<a class="elsevierStyleCrossRef" href="#bib0450"><span class="elsevierStyleSup">26</span></a> As with papillary coloboma&#44; these patients are at greater risk &#40;26&#8211;38&#37;&#41; of early serous RD&#46; In addition&#44; they could exhibit other ocular malformations including microphthalmia&#44; aniridia&#44; anterior segment dysgenesia&#44; pupil membrane persistence&#44; PFV and retinal arteriovenous communications&#46;</p><elsevierMultimedia ident="fig0035"></elsevierMultimedia><p id="par0125" class="elsevierStylePara elsevierViewall">The morning glory anomaly is generally an isolated condition and does not present as a part of a multisystemic disease although it has been described in association to facial and SNC malformations&#46; Midline anomalies such as hypertelorism&#44; cleft palate and cleft lip have been frequently described in these patients&#46; An additional frequent association is basal trans-sphenoid encephalocele&#44; that consists in a neural tissue hernia through a defect in the base of the cranium that can present clinic similar to nasal polyps&#46; In these cases&#44; it is very important to carry out adequate differential diagnostic in order to prevent surgical manipulation&#46; These patients could also exhibit endocrine anomalies&#44; mainly insipid diabetes&#46; In addition&#44; they present cerebral vascular malformations with greater frequency than the general population&#46; These malformations range between slights congenital variantsup to progressive internal carotid stenosis with Moyamoya disease&#44; a cerebrovascular disease characterized by progressive stenosis&#47;occlusion of the proximal portion of the main intracranial arteries that could cause severe neurological sequels&#46; In addition&#44; infant hemangioma have frequently beendescribed in these patients&#46;</p><p id="par0130" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">When diagnosing a morning glory anomaly&#44; cerebral MR and angio-MR must be requested to discard the above described cerebral malformations</span>&#46; If the neuroimaging study is suspect of the Moyamoya disease&#44; these tests should be repeated regularly depending on patient age and severity of the observed lesions&#46;<a class="elsevierStyleCrossRef" href="#bib0465"><span class="elsevierStyleSup">29</span></a></p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0095">Peripapillary staphyloma</span><p id="par0135" class="elsevierStylePara elsevierViewall">Generally&#44; peripapillary staphyloma is a unilateral nonhereditary congenital anomaly&#46; It has been postulated that it occurs due to incomplete posterior pole sclera differentiation in the 5th month of gestation&#44; i&#46;e&#46;&#44; a primary scleral anomaly&#46; Despite not being a congenital optic nerve anomaly&#44; it is included in this review because it is frequently confused with papillary coloboma and the morning glory anomaly&#46;</p><p id="par0140" class="elsevierStylePara elsevierViewall">Peripapillary staphyloma is characterized by a deep pit containing at the bottom an apparently normal or slightly pale papilla &#40;<a class="elsevierStyleCrossRef" href="#fig0040">Fig&#46; 8</a>&#41;&#46; Visual acuity is generally very diminished although some publications have reported cases with normal vision&#46; Other associated ocular anomalies have been described &#40;cataracts&#44; microphthalmia and PFV&#41; and serous RD development during follow-up&#46; Peripapillary staphyloma contractions have also been described&#46;<a class="elsevierStyleCrossRef" href="#bib0470"><span class="elsevierStyleSup">30</span></a> In general&#44; peripapillary staphyloma is not associated to other systemic or SNC malformations&#46; Accordingly&#44; <span class="elsevierStyleItalic">it is not necessary to request supplementary tests for these patients</span>&#44; although serial ophthalmological follow-up is recommended&#46;<a class="elsevierStyleCrossRef" href="#bib0475"><span class="elsevierStyleSup">31</span></a></p><elsevierMultimedia ident="fig0040"></elsevierMultimedia></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0100">Papillo-renal syndrome</span><p id="par0145" class="elsevierStylePara elsevierViewall">The papillo-renal syndrome is a hereditary vascular dysgenesia that primarily affects ocular and renal circulation&#46;<a class="elsevierStyleCrossRef" href="#bib0480"><span class="elsevierStyleSup">32</span></a> It is due to a mutation in PAX2 gene transmitted through dominant autosomic inheritance&#44; although de novo mutations are not infrequent&#46; The mutation in the PAX2 gene is identified in 50&#37; of patients affected by this syndrome&#46; Until a few years ago it was included within papillary colobomas but at present it is considered a completely different entity&#46;<a class="elsevierStyleCrossRef" href="#bib0485"><span class="elsevierStyleSup">33</span></a></p><p id="par0150" class="elsevierStylePara elsevierViewall">Generally&#44; optic discs have normal size with a central cup but a characteristic feature is the arrangement of central retinal vessels that exit the superior and inferior optic disk pole&#44; as well as the presence of multiple cilioretinal arteries<a class="elsevierStyleCrossRefs" href="#bib0490"><span class="elsevierStyleSup">34&#44;35</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0045">Fig&#46; 9</a>&#41;&#46;</p><elsevierMultimedia ident="fig0045"></elsevierMultimedia><p id="par0155" class="elsevierStylePara elsevierViewall">At the systemic level&#44; papillo-renal syndrome patients exhibit kidney hypoplasia with a variable degree of kidney insufficiency that frequently evolves to renal failure&#46; They could also exhibit vesicoureteral reflux and moderate neurosensory deafness&#46;</p><p id="par0160" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">In patients with bilateral dysplasic papilla with central pit and anomalous retinal vascular tree arrangement&#44; papillo-renal syndrome should be suspected&#46; Renal echography and kidney function study must be requested&#46; As this syndrome is due to dominant autosomic inheritance&#44; it would be recommendable to request parents to undergo ocular fundus examination&#46;</span></p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0105">Optic pit</span><p id="par0165" class="elsevierStylePara elsevierViewall">Optic pits are usually unilateral and sporadic&#46; Even though etiopathogeny is unknown&#44; most publications consider optic pits a variant of papillary coloboma despite some clinic evidence to the contrary&#46; Optic pits are located in the temporal sector of the papilla and are not associated to colobomas in other ocular globe areas or to systemic anomalies&#44; whereas papillary colobomas &#40;as described above&#41; can be uni- or bilateral and hereditary and are associated to colobomas in other areas of the eye and to multiple systemic anomalies&#46;<a class="elsevierStyleCrossRefs" href="#bib0425"><span class="elsevierStyleSup">21&#44;36</span></a></p><p id="par0170" class="elsevierStylePara elsevierViewall">Optic pits are characterized by an oval&#44; grayish or yellowish depression generally localized in the temporal sector of the papilla&#46; The papilla containing the pit is generally larger than the contralateral papilla&#46; Over 50&#37; of cases exhibit one or 2 cilioretinal arteries &#40;<a class="elsevierStyleCrossRef" href="#fig0050">Fig&#46; 10</a>&#41;&#46; Vision is normal except when macular serous RD occurs&#46; For this reason it is essential to maintain serial follow-up of the ocular fundus&#44; as a high percentage of cases will develop said complication&#44; above all when the pit is in the temporal sector of the papilla&#46;<a class="elsevierStyleCrossRef" href="#bib0505"><span class="elsevierStyleSup">37</span></a> Optic pits or dimples are not associated to other systemic or CNS malformations and therefore these patients <span class="elsevierStyleItalic">do not require supplementary systemic tests&#46;</span></p><elsevierMultimedia ident="fig0050"></elsevierMultimedia></span><span id="sec0050" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0110">Megalopapilla</span><p id="par0175" class="elsevierStylePara elsevierViewall">Megalopapilla is a sporadic and generally bilateral anomaly&#44; characterized by a large papilla with a diameter above 2&#46;1<span class="elsevierStyleHsp" style=""></span>mm and&#47;or an area larger than 2&#46;5<span class="elsevierStyleHsp" style=""></span>mm<span class="elsevierStyleSup">2</span> but with normal morphology&#44; with the exception of a larger disk&#47;cup ratio &#40;<a class="elsevierStyleCrossRef" href="#fig0055">Fig&#46; 11</a>&#41;&#46; Vision is normal and the visual field shows increased blind spot&#46; Megalopapilla is not associated to other systemic or CNS malformations&#44; and therefore <span class="elsevierStyleItalic">it is not necessary to request supplementary test</span>s&#46; However&#44; differential diagnostic must be performed with a glaucomatous papilla&#44; even though the large papillary diameter facilitates the differentiation of both entities&#46;<a class="elsevierStyleCrossRef" href="#bib0425"><span class="elsevierStyleSup">21</span></a></p><elsevierMultimedia ident="fig0055"></elsevierMultimedia></span><span id="sec0055" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0115">Papillary drusen</span><p id="par0180" class="elsevierStylePara elsevierViewall">Papillary drusen appear in 0&#46;3&#37; of the population&#44; bilaterally in approximately 80&#37; of cases&#44; although histological autopsy studies revealed higher prevalence&#46; Papillary drusen can express sporadically or through dominant autosomic inheritance with incomplete penetrance&#46; Etiopathogeny is not well known although the most accepted theory is that an alteration in the axoplasmic transport through a small scleral channel could lead to axonal degeneration&#46; Electronic microscopy shows intracellular mitochondrial calcifications&#46; Some axons could break&#44; releasing mitochondria into the extracellular space&#46; Calcium would continue to deposit in these mitochondria to form drusen&#46; The latter comprise mucopolysaccharides&#44; aminoacids&#44; ribonucleic acids&#44; deoxyribonucleic acid&#44; calcium and small amounts of iron&#46;<a class="elsevierStyleCrossRefs" href="#bib0510"><span class="elsevierStyleSup">38&#44;39</span></a></p><p id="par0185" class="elsevierStylePara elsevierViewall">Drusen evolve dynamically&#46; In infants&#44; drusen are usually buried and the nerve has a full appearance without a cup&#44; but subsequently generally nasal excretions are observed that increase in size with calcification and become more visible at the surface&#44; with diminished elevation of the nerve&#46; However&#44; 60&#37; of drusen remained buried in adults&#46;<a class="elsevierStyleCrossRef" href="#bib0520"><span class="elsevierStyleSup">40</span></a> In addition to said papillary morphology characteristics&#44; retinal vessels are usually intricate and dilated&#44; exhibiting anomalous ramifications and vascular loops&#46; In addition&#44; cilioretinal arteries &#40;20&#8211;40&#37;&#41; and optociliar shunts &#40;4&#8211;6&#37;&#41; can be observed &#40;<a class="elsevierStyleCrossRefs" href="#fig0060">Figs&#46; 12 and 13</a>&#41;&#46;</p><elsevierMultimedia ident="fig0060"></elsevierMultimedia><elsevierMultimedia ident="fig0065"></elsevierMultimedia><p id="par0190" class="elsevierStylePara elsevierViewall">When drusen are superficial&#44; ophthalmoscopy greatly facilitates diagnostic but&#44; when buried&#44; supplementary imaging tests must be performed to identify them&#58;<ul class="elsevierStyleList" id="lis0010"><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">&#8211;</span><p id="par0195" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Mode B ocular echography</span> is the most reliable method for detecting calcified drusen&#46; It shows a hyper-reflective image with low gain and posterior acoustic shadow&#46;<a class="elsevierStyleCrossRef" href="#bib0525"><span class="elsevierStyleSup">41</span></a></p></li><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">&#8211;</span><p id="par0200" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Autofluorescence</span> detects superficial drusen but can give false negatives in buried drusen cases&#46; Therefore&#44; it has less sensitivity than echography for detecting drusen&#46;<a class="elsevierStyleCrossRef" href="#bib0530"><span class="elsevierStyleSup">42</span></a></p></li><li class="elsevierStyleListItem" id="lsti0045"><span class="elsevierStyleLabel">&#8211;</span><p id="par0205" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Optical coherence tomography</span> &#40;OCT&#41; is very useful for assessing the loss of retina nerve fiber layer &#40;RNFL&#41;&#59; it has been observed that the thickness of RNFL and ganglion cell layer-internal plexiform layer are diminished in patients with papillary drusen&#46; Whereas the use of OCT for differential diagnostic between pseudo-papilledema due to buried drusen and papillary edema is controversial&#44;<a class="elsevierStyleCrossRefs" href="#bib0535"><span class="elsevierStyleSup">43&#8211;45</span></a> new generation OCT comprising Enhanced Depth Imaging-OCT &#40;EDI-OCT&#41; and Swept Source-OCT&#44; enable the quantification of drusen size and the examination of adjacent structures integrity in the retina and optic nerve&#44; and could be better than mode B echography and non-EDI OCT for detecting drusen&#46;<a class="elsevierStyleCrossRefs" href="#bib0550"><span class="elsevierStyleSup">46&#8211;49</span></a></p></li><li class="elsevierStyleListItem" id="lsti0050"><span class="elsevierStyleLabel">&#8211;</span><p id="par0210" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Computerized tomography</span> enables the identification of calcified drusen but should not be utilized for studying drusen as they could remain between 2 sections and go undetected&#44; besides exposing patients to radiation&#46;</p></li></ul></p><p id="par0215" class="elsevierStylePara elsevierViewall">When drusen are buried&#44; the appearance of the papilla could raise diagnostic doubts vis-&#224;-vis papiledema&#46; It is important to carry out adequate differential diagnostic in order to avoid requesting unnecessary systemic tests for these patients&#46; <a class="elsevierStyleCrossRef" href="#tbl0010">Table 2</a> summarizes the ophthalmoscopic characteristics that assist in differentiating both entities&#46; Even so&#44; on many occasions it will be necessary to resort to the above commented imaging tests&#46; However&#44; it must be taken into account that drusen to not protect against the development of intracranial hypertension&#44; which means that pseudo-papilledema due to buried drusen could coexist with papiledema in the same patients&#44; complicating diagnostic even more&#46;<a class="elsevierStyleCrossRef" href="#bib0570"><span class="elsevierStyleSup">50</span></a></p><elsevierMultimedia ident="tbl0010"></elsevierMultimedia><p id="par0220" class="elsevierStylePara elsevierViewall">The presence of papillary drusen&#44; mainly the superficial type&#44; has been associated to campimetric defects&#44; but the mechanism through which drusen produce said complications is not well known&#46; Campimetric defects appear in the first two decades of life and exhibit progression in extension and prevalence with age&#46; Lee et al&#46;<a class="elsevierStyleCrossRef" href="#bib0575"><span class="elsevierStyleSup">51</span></a> detected a visual field loss progression rate of 1&#46;6&#37; per year during the follow-up of 36 months&#46; In addition&#44; they observed that patients with minimum visual field loss or without campimetric defects were younger than those with moderate or severe visual field deterioration&#46; Wilkins et al&#46;<a class="elsevierStyleCrossRef" href="#bib0580"><span class="elsevierStyleSup">52</span></a> observed that superficial drusen associated campimetric defects with higher frequency than buried drusen &#40;73&#37; vs 36&#37;&#41;&#46; Studies carried out in pediatric populations have also observed that drusen are associated to campimetric defects&#44; more frequently so when drusen are superficial&#46;<a class="elsevierStyleCrossRef" href="#bib0585"><span class="elsevierStyleSup">53</span></a> Most frequently described campimetric alterations are defects in the inferior nasal quadrant&#44; blind spot increase&#44; peripheral contraction and arcuate defects&#46;</p><p id="par0225" class="elsevierStylePara elsevierViewall">Optic nerve drusen are related with vaso-occlusive occurrences such as non-arteritic anterior ischemic optic neuropathy &#40;NAION&#41; and occlusion of the central retinal vein and artery&#46; Patients with papillary drusen who develop NAION exhibit similar characteristics to patients with NAION without drusen in what concerns the prevalence of risk factors&#44; campimetric pattern and contralateral eye involvement&#46; However&#44; patients with drusen are younger&#44; frequently exhibit temporary visual darkening episodes prior to systemic involvement and generally have better visual prognosis than NAION patients without drusen&#46;<a class="elsevierStyleCrossRef" href="#bib0590"><span class="elsevierStyleSup">54</span></a> Drusen have also been associated to the development of neovascular membranes adjacent to the optic disk&#46; Duncan et al&#46;<a class="elsevierStyleCrossRef" href="#bib0595"><span class="elsevierStyleSup">55</span></a> detected 24&#46;5&#37; in a study carried out with EDI-OCT in children&#46; They only need to be treated if affecting central vision&#44; as they generally regress spontaneously&#46; In contrast&#44; retinal hemorrhages without subretinal neovascularization have been described in 2&#8211;10&#37; of cases&#46; Some mechanisms for explaining these hemorrhages are the erosion of nerve and vessels by the drusen&#44; congestion and venous stasis&#44; retinociliar venous communications and ischemia&#46;<a class="elsevierStyleCrossRef" href="#bib0600"><span class="elsevierStyleSup">56</span></a></p><p id="par0230" class="elsevierStylePara elsevierViewall">The majority of patients are asymptomatic and exhibit good visual acuity without being aware of their campimetric defects because they progress very slowly&#46; Severe and sudden visual field losses are usually secondary to vascular complications&#44; although they have been described in exclusive association to drusen due to compression mechanisms&#44; without signs of associated vascular involvement&#46;</p><p id="par0235" class="elsevierStylePara elsevierViewall">Pigment retinosis&#44; the Alagille syndrome&#44; elastic pseudoxanthoma and angioid striations present papillary drusen with greater frequency than the general population&#46;<a class="elsevierStyleCrossRefs" href="#bib0515"><span class="elsevierStyleSup">39&#44;57&#8211;59</span></a></p><p id="par0240" class="elsevierStylePara elsevierViewall">There is no treatment for papillary drusen&#44; although it is recommended to prescribe topical anti-hypertensive treatment if campimetric defects progress or are very extensive&#46;</p><p id="par0245" class="elsevierStylePara elsevierViewall">Patients with drusen not require supplementary systemic examinations as it is an isolated ocular pathology&#46; However&#44; <span class="elsevierStyleItalic">it is important to carry out serial ophthalmological follow-up</span> due to the possible appearance of campimetric defects and associated vaso-occlusive complications&#46;</p></span><span id="sec0060" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0120">Presence of myelin fibers</span><p id="par0250" class="elsevierStylePara elsevierViewall">The presence of myelin fibers is found in less than 1&#37; of the population and generally in a sporadic manner&#46; Despite being a congenital anomaly that remains stable&#44; in some cases it can be acquired&#44; it could progress or even disappear after a range of retinal pathologies &#40;venous retinal occlusion&#44; chronic glaucoma&#44; etc&#46;&#41; or after retinal laser treatment&#46; Whereas the congenital presence of myelin fibers is generally a unilateral anomaly&#44; acquired myelin fibers during infancy are usually bilateral&#46;</p><p id="par0255" class="elsevierStylePara elsevierViewall">Optic pathway myelinization begins in the lateral geniculate body during the 5th month of gestation and terminates in the <span class="elsevierStyleItalic">lamina cribrosa</span> at the end of gestation or shortly thereafter&#44; which means that retinal nerve fibers are not myelinized as in normal conditions&#46; Pathogeny of the presence of congenital myelin fibers is not entirely known&#44; but it is postulated that events altering the integrity of the <span class="elsevierStyleItalic">lamina cribrosa</span> or an imbalance between the formation thereof &#40;which develops from the limbus&#41; and the myelinization process which&#44; as discussed above&#44; is formed in the geniculate body&#44; would enable the entry of oligodendrocytes into the ocular globe&#46; Oligodendrocytes are the cells in charge of forming the myelin sheath in the CNS&#46; The 2nd mechanism seems more feasible in myopic patients due to having larger eyes&#46;<a class="elsevierStyleCrossRef" href="#bib0620"><span class="elsevierStyleSup">60</span></a> In what concerns the myelin fibers acquired during infancy&#44; it is postulated that this could be due to a disruption of the <span class="elsevierStyleItalic">lamina cribrosa</span> associated to a lesion in the optic nerve&#44; as it has been described in patients with intracranial hypertension&#44; presence of drusen or glioma in the optic nerve&#46;<a class="elsevierStyleCrossRefs" href="#bib0625"><span class="elsevierStyleSup">61&#44;62</span></a></p><p id="par0260" class="elsevierStylePara elsevierViewall">The presence of myelin fibers is characterized by white and irregular plates that darken the details of the retina &#40;<a class="elsevierStyleCrossRef" href="#fig0070">Fig&#46; 14</a>&#41;&#46; They are generally arranged around the optic disk but can appear at a distance&#46; In most occasions&#44; these fibers do not produce vision alterations and are diagnosed casually during ophthalmological examinations&#46; However&#44; in some cases myelin fibers are associated with myopic anisometropia&#44; amblyopia and strabismus&#46; The presence of myelin fibers is frequently an isolated ocular anomaly&#46; Even so&#44; it has been associated to other ocular alterations such as epiretinal membranes&#44; venous branch occlusions and recurring vitreous hemorrhages&#44; as well as the Gorlin syndrome&#46;<a class="elsevierStyleCrossRefs" href="#bib0620"><span class="elsevierStyleSup">60&#44;63&#44;64</span></a></p><elsevierMultimedia ident="fig0070"></elsevierMultimedia><p id="par0265" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">When the presence of myelin fibers is detected&#44; it is important to perform refraction under cycloplegia to discard anisometropia and correct the refraction defect&#44; and begin occlusions at an early stage&#46; Supplementary systemic examinations are not indicated&#46;</span></p></span><span id="sec0065" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0125">Conclusions</span><p id="par0270" class="elsevierStylePara elsevierViewall">Congenital optic disk anomalies comprise a heterogeneous group of entities with unique ophthalmoscopic characteristics which should be well known in order to prepare adequate differential diagnostics and accordingly to request necessary supplementary examinations and indicate appropriate follow-up&#46; <a class="elsevierStyleCrossRef" href="#tbl0015">Table 3</a> summarizes the supplementary tests recommended for each of said anomalies&#46; As regards papillary drusen&#44; it is very important to elaborate a differential diagnostic with papiledema in order to avoid subjecting the patients to unnecessary and painful tests&#46;</p><elsevierMultimedia ident="tbl0015"></elsevierMultimedia></span><span id="sec0070" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0130">Conflict of interest</span><p id="par0275" class="elsevierStylePara elsevierViewall">No conflict of interest was declared by the authors&#46;</p></span></span>"
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          "titulo" => "Resumen"
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              "titulo" => "Objetivo"
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              "titulo" => "M&#233;todos"
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              "titulo" => "Conclusiones"
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          "identificador" => "sec0005"
          "titulo" => "Introduction"
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        5 => array:2 [
          "identificador" => "sec0010"
          "titulo" => "Optic nerve aplasia"
        ]
        6 => array:2 [
          "identificador" => "sec0015"
          "titulo" => "Optic nerve hypoplasia"
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        7 => array:2 [
          "identificador" => "sec0020"
          "titulo" => "Tilted optic disk"
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        8 => array:2 [
          "identificador" => "sec0025"
          "titulo" => "Papillary coloboma"
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        9 => array:2 [
          "identificador" => "sec0030"
          "titulo" => "Morning glory anomaly"
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        10 => array:2 [
          "identificador" => "sec0035"
          "titulo" => "Peripapillary staphyloma"
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          "identificador" => "sec0040"
          "titulo" => "Papillo-renal syndrome"
        ]
        12 => array:2 [
          "identificador" => "sec0045"
          "titulo" => "Optic pit"
        ]
        13 => array:2 [
          "identificador" => "sec0050"
          "titulo" => "Megalopapilla"
        ]
        14 => array:2 [
          "identificador" => "sec0055"
          "titulo" => "Papillary drusen"
        ]
        15 => array:2 [
          "identificador" => "sec0060"
          "titulo" => "Presence of myelin fibers"
        ]
        16 => array:2 [
          "identificador" => "sec0065"
          "titulo" => "Conclusions"
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        17 => array:2 [
          "identificador" => "sec0070"
          "titulo" => "Conflict of interest"
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          "titulo" => "References"
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    "fechaRecibido" => "2016-04-17"
    "fechaAceptado" => "2016-05-30"
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          "palabras" => array:6 [
            0 => "Optic nerve"
            1 => "Congenital"
            2 => "Hypoplasia"
            3 => "Coloboma"
            4 => "Optic disk drusen"
            5 => "Myelinated nerve fibers"
          ]
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          "titulo" => "Palabras clave"
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          "palabras" => array:6 [
            0 => "Nervio &#243;ptico"
            1 => "Cong&#233;nito"
            2 => "Hipoplasia"
            3 => "Coloboma"
            4 => "Drusas de la papila"
            5 => "Presencia de fibras de mielina"
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    "resumen" => array:2 [
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        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Objective</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">To update the current knowledge about congenital optic disk anomalies&#46;</p></span> <span id="abst0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Methods</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A comprehensive literature search was performed in the major biomedical databases&#46;</p></span> <span id="abst0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Results</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Patients with these anomalies usually have poor vision in infancy&#46; Refractive errors are common&#44; and serous retinal detachment may develop in some of these anomalies&#46; It is critically important to clinically differentiate between these congenital optic disk anomalies&#44; as central nervous system malformations are common in some&#44; whereas others may be associated with systemic anomalies&#46;</p></span> <span id="abst0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Conclusions</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Congenital optic disk anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations&#46; We should always try to make a correct diagnosis&#44; in order to ask for specific tests&#44; as well as to provide an adequate follow-up&#46;</p></span>"
        "secciones" => array:4 [
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        "titulo" => "Resumen"
        "resumen" => "<span id="abst0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Objetivo</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Revisar y actualizar la bibliograf&#237;a existente sobre las anomal&#237;as cong&#233;nitas y del desarrollo del nervio &#243;ptico&#46;</p></span> <span id="abst0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">M&#233;todos</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Se ha realizado una b&#250;squeda exhaustiva de la bibliograf&#237;a en las principales bases de datos biom&#233;dicas&#46;</p></span> <span id="abst0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Resultados</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Los pacientes suelen presentarse en la infancia con baja visi&#243;n&#46; Los defectos de refracci&#243;n son frecuentes y algunas de ellas pueden desarrollar un desprendimiento de retina seroso&#46; Sobre todo&#44; es imprescindible realizar un correcto diagn&#243;stico diferencial dado que algunas asocian malformaciones del sistema nervioso central&#44; mientras que otras se presentan asociadas a malformaciones sist&#233;micas&#46;</p></span> <span id="abst0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conclusiones</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Las anomal&#237;as cong&#233;nitas del nervio &#243;ptico incluyen un grupo heterog&#233;neo de entidades con unas caracter&#237;sticas oftalmosc&#243;picas singulares y asociaciones sist&#233;micas frecuentes&#46; Un diagn&#243;stico correcto permitir&#225; solicitar las exploraciones complementarias necesarias e indicar un seguimiento adecuado a estos pacientes&#46;</p></span>"
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        "etiqueta" => "&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0010">Please cite this article as&#58; Mart&#237;n-Begu&#233; N&#44; Saint-Gerons M&#46; Anomal&#237;as cong&#233;nitas y del desarrollo del nervio &#243;ptico&#46; Arch Soc Esp Oftalmol&#46; 2016&#59;91&#58;577&#8211;588&#46;</p>"
      ]
    ]
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        "etiqueta" => "Fig&#46; 1"
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        "descripcion" => array:1 [
          "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Optic nerve aplasia&#46; Only choroidal vessels can be observed&#44; but papilla or central retinal vessels cannot be clearly seen&#46;</p>"
        ]
      ]
      1 => array:7 [
        "identificador" => "fig0010"
        "etiqueta" => "Fig&#46; 2"
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          "en" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Cerebral MR of bilateral optic nerve aplasia&#46; Coronal MR section does not show optic nerve&#46; Infrequently&#44; this case did not associate other cerebral malformations&#46;</p>"
        ]
      ]
      2 => array:7 [
        "identificador" => "fig0015"
        "etiqueta" => "Fig&#46; 3"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
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        "descripcion" => array:1 [
          "en" => "<p id="spar0055" class="elsevierStyleSimplePara elsevierViewall">Optic nerve hypoplasia with small papilla&#44; showing a small papilla with the double ring sign &#40;hypopigmented ring surrounding the papilla&#41;&#46;</p>"
        ]
      ]
      3 => array:7 [
        "identificador" => "fig0020"
        "etiqueta" => "Fig&#46; 4"
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        "figura" => array:1 [
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          "en" => "<p id="spar0060" class="elsevierStyleSimplePara elsevierViewall">Optic nerve hypoplasia with normal size papilla&#44; showing papilla with normal size and large cup&#46;</p>"
        ]
      ]
      4 => array:7 [
        "identificador" => "fig0025"
        "etiqueta" => "Fig&#46; 5"
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        "mostrarFloat" => true
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        "figura" => array:1 [
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        "descripcion" => array:1 [
          "en" => "<p id="spar0065" class="elsevierStyleSimplePara elsevierViewall">Tilted optic disk&#44; showing oval papilla with oblique long axis with the presence of inferonasal crescent&#46;</p>"
        ]
      ]
      5 => array:7 [
        "identificador" => "fig0030"
        "etiqueta" => "Fig&#46; 6"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr6.jpeg"
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        "descripcion" => array:1 [
          "en" => "<p id="spar0070" class="elsevierStyleSimplePara elsevierViewall">Papillary coloboma&#44; showing larger papilla with downwardly displaced cup&#46; Only the superior neuroretinal ring is preserved&#46;</p>"
        ]
      ]
      6 => array:7 [
        "identificador" => "fig0035"
        "etiqueta" => "Fig&#46; 7"
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        "mostrarFloat" => true
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          "en" => "<p id="spar0075" class="elsevierStyleSimplePara elsevierViewall">Morning glory anomaly&#44; showing large papilla with central glial tissue&#44; radiant distribution of retinal vessels and peripapillary hyperpigmentation&#46;</p>"
        ]
      ]
      7 => array:7 [
        "identificador" => "fig0040"
        "etiqueta" => "Fig&#46; 8"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr8.jpeg"
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          "en" => "<p id="spar0080" class="elsevierStyleSimplePara elsevierViewall">Peripapillary staphyloma&#44; with apparently normal papilla at the bottom of a pit&#46; Retinal vessels can be seen curved at the edge of the pit&#46;</p>"
        ]
      ]
      8 => array:7 [
        "identificador" => "fig0045"
        "etiqueta" => "Fig&#46; 9"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
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          "en" => "<p id="spar0085" class="elsevierStyleSimplePara elsevierViewall">Papillo-renal syndrome&#44; showing papilla with normal size exhibiting central pit and anomalous retinal vessel arrangements emerging from the superior period and inferior pole of the papilla&#46;</p>"
        ]
      ]
      9 => array:7 [
        "identificador" => "fig0050"
        "etiqueta" => "Fig&#46; 10"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
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        "descripcion" => array:1 [
          "en" => "<p id="spar0090" class="elsevierStyleSimplePara elsevierViewall">Optic pit&#44; with grayish oval-shaped dimple in temporal sector of the papilla&#46;</p>"
        ]
      ]
      10 => array:7 [
        "identificador" => "fig0055"
        "etiqueta" => "Fig&#46; 11"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
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        "figura" => array:1 [
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            "Tamanyo" => 100219
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          "en" => "<p id="spar0095" class="elsevierStyleSimplePara elsevierViewall">Megalopapilla&#44; large papilla with increased cup&#47;disco ratio&#46;</p>"
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      ]
      11 => array:7 [
        "identificador" => "fig0060"
        "etiqueta" => "Fig&#46; 12"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
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            "imagen" => "gr12.jpeg"
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            "Tamanyo" => 88656
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        "descripcion" => array:1 [
          "en" => "<p id="spar0100" class="elsevierStyleSimplePara elsevierViewall">Buried papillary drusen&#44; filled-in and elevated papilla without pit&#46;</p>"
        ]
      ]
      12 => array:7 [
        "identificador" => "fig0065"
        "etiqueta" => "Fig&#46; 13"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
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            "imagen" => "gr13.jpeg"
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          "en" => "<p id="spar0105" class="elsevierStyleSimplePara elsevierViewall">Superficial papillary drusen&#44; showing filled-in and elevated papilla without cup with excrescences located mainly in the nasal edge of the papilla&#44; corresponding to drusen&#46;</p>"
        ]
      ]
      13 => array:7 [
        "identificador" => "fig0070"
        "etiqueta" => "Fig&#46; 14"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr14.jpeg"
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            "Tamanyo" => 76871
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        "descripcion" => array:1 [
          "en" => "<p id="spar0110" class="elsevierStyleSimplePara elsevierViewall">Presence of myelin fibers&#46; Whitish&#44; uneven plates arranged around the papilla and throughout the superior temporal arc of the right eye&#44; hiding retinal vessels&#46;</p>"
        ]
      ]
      14 => array:8 [
        "identificador" => "tbl0005"
        "etiqueta" => "Table 1"
        "tipo" => "MULTIMEDIATABLA"
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                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><tbody title="tbody"><tr title="table-row"><td class="td" title="table-entry  " rowspan="3" align="left" valign="top">Morphological anomalies morfolog&#237;a</td><td class="td" title="table-entry  " align="left" valign="top">Optic nerve aplasia&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Optic nerve hypoplasia&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Oblique optic disk&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " rowspan="6" align="left" valign="top">Cup anomalies</td><td class="td" title="table-entry  " align="left" valign="top">Papillar coloboma&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Morning glory anomaly&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Peripapillary staphyloma&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Papillo-renal syndrome&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Optic pit&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Megalopapilla&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " rowspan="2" align="left" valign="top">Abnormal tissue in disk</td><td class="td" title="table-entry  " align="left" valign="top">Papillary drusen&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Presence of myelin fibers&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
              ]
              "imagenFichero" => array:1 [
                0 => "xTab1264189.png"
              ]
            ]
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0115" class="elsevierStyleSimplePara elsevierViewall">Classification of congenital and developmental optic nerve anomalies&#46;</p>"
        ]
      ]
      15 => array:8 [
        "identificador" => "tbl0010"
        "etiqueta" => "Table 2"
        "tipo" => "MULTIMEDIATABLA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at2"
            "detalle" => "Table "
            "rol" => "short"
          ]
        ]
        "tabla" => array:1 [
          "tablatextoimagen" => array:1 [
            0 => array:2 [
              "tabla" => array:1 [
                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Incipient papilledema&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th><th class="td" title="table-head  " align="center" valign="top" scope="col" style="border-bottom: 2px solid black">Pseudo-papiledema due to buried drusen&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Los of cup only in moderate or severe cases&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Small disks without cup&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Elevation extends to the peripapillary retina&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Elevation only affects the papilla&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Vessels on the margin of the nerve not visible&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Vessels visible on the margin of the nerve&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Vascular ramification with normal configuration&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Abnormal vascular ramification patterns&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Venous ingurgitation&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No venous ingurgitation&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Exudates&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No exudates&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Absence of spontaneous venous pulse&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Venous pulse can be present or absent&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
              ]
              "imagenFichero" => array:1 [
                0 => "xTab1264190.png"
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          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0120" class="elsevierStyleSimplePara elsevierViewall">Differential diagnostic between incipient papiledema and pseudo-papilledema due to drusen&#46;</p>"
        ]
      ]
      16 => array:8 [
        "identificador" => "tbl0015"
        "etiqueta" => "Table 3"
        "tipo" => "MULTIMEDIATABLA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at3"
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        "tabla" => array:2 [
          "tablatextoimagen" => array:1 [
            0 => array:2 [
              "tabla" => array:1 [
                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Congenital anomaly&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th><th class="td" title="table-head  " align="center" valign="top" scope="col" style="border-bottom: 2px solid black">Systemic study&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th><th class="td" title="table-head  " align="center" valign="top" scope="col" style="border-bottom: 2px solid black">Cerebral MR&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Optic nerve aplasia</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes &#40;bilateral anomaly&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " colspan="3" align="left" valign="top"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td" title="table-entry  " colspan="3" align="left" valign="top"><span class="elsevierStyleItalic">Optic nerve hypoplasia</span></td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Small disk&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Endocrinology study<a class="elsevierStyleCrossRef" href="#tblfn0005"><span class="elsevierStyleSup">a</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes &#40;uni- and bilateral anomaly&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Normal disk&#47;large cup&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry  " colspan="3" align="left" valign="top"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Tilted optic disk</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Papillary coloboma</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Morning glory anomaly</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes &#40;MR and angio-MR&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Peripapillary staphyloma</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Papillo-renal syndrome</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Abdominal echography&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Optic pit</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Megalopapilla</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Papillary drusen</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Presence of myelin fibers</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
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          "en" => "<p id="spar0125" class="elsevierStyleSimplePara elsevierViewall">Supplementary studies according to detected optic nerve anomaly&#46;</p>"
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Article information

ISSN: 21735794
Original language: English

DOI:10.1016/j.oftale.2016.09.004

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