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Vitreous amyloidosis as primary manifestation of disease: Case report
Amiloidosis vítrea como manifestación primaria de enfermedad: reporte de caso
R. García Francoa, A. Arias Gómeza,
Corresponding author
alejandroariasgomezmd@gmail.com

Corresponding author.
, M. García Roaa, P. Ramírez Neriaa, S. Corredor Casasb
a Departamento de Retina y Vítreo, Instituto Mexicano de Oftalmología I.A.P, Santiago de Querétaro, Mexico
b Departamento de Patología, Instituto Mexicano de Oftalmología I.A.P, Santiago de Querétaro, Mexico
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However said opacity is not frequently observed as the initial or isolated expression of the disease&#44; which makes the present case unusual&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinic case report</span><p id="par0015" class="elsevierStylePara elsevierViewall">Female 35&#44; who visited due to diminished vision in both eyes with 6 months evolution&#44; without any other ophthalmological or systemic associated symptoms&#46; The only relevant referred antecedent was the demise of her brother due to amyloidosis&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Visual acuity was finger counting at 30&#8239;cm in the right eye and 20&#47;70 in the left eye&#46; No alterations were found in the anterior segment and the intraocular pressure was normal in both eyes&#46; Right eye indirect ophthalmoscopy showed white and homogeneous vitreous from the posterior surface of the lens that did not allow further examination&#44; while the left eye showed whitish vitreous towards the periphery with band opacities in the cortical region&#46; Optic nerve and retina were normal &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">Systemic studies produced normal results&#44; chest X-ray did not show alterations and right eye ultrasound showed homogeneous echoes with medium reflectiveness throughout the vitreous cavity&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Taking into account the family history of the patient and the high suspicion of amyloidosis&#44; internal medicine examination was requested and vitrectomy was suggested for histopathological study of the vitreous&#46; Vitrectomy was performed with conventional 27 Gauge utilizing 3 ports&#46; The procedure discarded vasculitis data &#40;video of surgical management of patient&#58; <a href="https://eyetube.net/video/rpesp/">https&#58;&#47;&#47;eyetube&#46;net&#47;video&#47;rpesp&#47;</a>&#41;&#46; Vitreous sample was sent to pathology for study with specific red Congo and cristal violet stain&#46; After visualization with polarized light microscopy the samples gave positive for amyloid material &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">Three months later the patient had 20&#47;30 visual acuity in the right eye and 20&#47;70 in the left eye&#46; &#40;Right eye fundus&#58; <a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; Vitrectomy was not performed in the left eye because the patient declined treatment at the time&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0040" class="elsevierStylePara elsevierViewall">Amyloidosis comprises an infrequent group of diseases characterized by the deposits of amyloid material in the extracellular space of organs and tissues&#44; giving rise to functional and structural alterations according to their location&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Approximately 75&#37; of patients exhibit primary amyloidosis&#44; 5&#37; secondary amyloidosis and less than 5&#37; develop familial amyloidosis&#46; Diagnosis is based on clinical suspicion and confirmation of the presence of amyloid substance in tissues&#46; Said amyloid deposits are constituted by a series of fibrillar proteins biochemically unrelated to each other but sharing&#44; characteristics including apple green birefringence with polarized light when stained with Congo red and a highly organized &#946;-laminar folded leaf configuration endowing it with distinctive physicochemical properties of amyloid fibrils&#44; including relative stability and resistance to proteolysis&#46; Amyloid deposits also comprise non-fibrillar elements such as serum P amyloid&#44; glycosaminoglycanes&#44; apolipoprotein E&#44; collagen tipo IV and laminin&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Multiple classifications have been proposed based on the presence or absence of underlying pathology&#44; the histological location of amyloid deposits&#44; the distribution pattern in organs and the type of deposited protein&#46; Primary amyloidosis is a variant that has no concomitant disease and comprises a clonal population of plasmatic cells that produces a monoclonal light chain of the kappa or more frequently lambda frequency&#46; The variable portion of this light immunoglobulin chain constitutes the precursor protein of amyloid fibrils&#46; Said fibrils can deposit in any organ or tissue of the body excepting the central nervous system&#44; giving rise to the typical clinic expressions of the disease&#46; In these cases the most compromised organ is the kidney &#40;70&#8211;80&#37; of cases&#41; followed by the heart &#40;50&#8211;60&#37; of cases&#41;&#46; Secondary amyloidosis are related to chronic infectious&#44; neoplastic and inflammatory diseases&#46; Familial amyloidosis comprise autosomal-dominant genetic transmission diseases with the exception of amyloidosis associated to familial Mediterranean fever which has recessive transmission&#46; The most prevalent forms of familial amyloidosis are familial amyloidotic polyneuropathy and the familial Mediterranean fever&#46; Familial amyloidotic polyneuropathy is an dominant autosomic amyloidosis with incomplete penetrance and variable expressiveness&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">It has been reported that ocular expressions occur in approximately 10&#37; of familial amyloidotic polyneuropathy cases&#44; with an incidence of vitreous opacities ranging between 5&#46;4&#37; and 35&#37;&#46;<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5&#44;6</span></a> Vitreous compromise is infrequent in primary amyloidosis&#44; with the initial or isolated expression of the disease being even more infrequent&#44; which makes the present case exceptional&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">With vitreous compromise&#44; characteristics signs frequently include bilateral and asymmetric vitreous opacity with a &#8220;ground glass&#8221; appearance&#44; the density of which determines the severity of visual symptoms that include floaters and diminished visual acuity&#46; These opacities usually extend from the vitreous cortex towards the center and could be associated to other signs such as deposits in the iris&#44; choroidal infiltration and amyloid glaucoma due to perivascular deposits of fibrillar substances in the conjunctiva and episclera that produce episcleral venous pressure increases&#44; amyloid deposits in the pupil edge and trabecular mesh&#46; Other important signs of vitreous amyloidosis are perivascular deposits and <span class="elsevierStyleItalic">pseudopodia lentis</span>&#46; Retinal vessels are generally normal although in some cases perivascular deposits could appear in the form of focal plates&#44; generating some degree of vascular tortuosity&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Surgical treatment was introduced in 1950 with failed vitreous body aspiration attempts&#46; In 1968&#44; Kasner described open vitrectomy as a successful albeit complex procedure with a significant rate of complications&#46; In 1987&#44; Doft et al&#46; reported the results of 36 vitrectomies in patients with vitreous amyloidosis&#46; The recurrence of opacities was the most frequent cause of re-intervention for 27&#37; of patients&#46; Complications included retina detachment in 17&#37; of eyes and glaucoma requiring filtrating surgery in a further 17&#37;&#46; After a mean postoperative follow-up of 35 months&#44; 48&#37; of eyes had 20&#47;40 or better visual acuity and 32&#37; of eyes had between 20&#47;50 and 20&#47;100&#46; Twenty percent of eyes had 20&#47;200 visual acuity or worse due to retina detachment&#44; open angle glaucoma or residual opacification&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> The incidence of complications has diminished considerably by the use of less invasive techniques&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> At present&#44; the main surgical difficulties are incomplete removal of the vitreous and postoperative recurrence of vitreous opacities due to dispersion of residual fibers and the continuous production of transthyretin in the retina and choroidal plexus&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">Histologically&#44; amyloid deposits in the vitreous can be observed as pale eosinophile material&#44; exhibiting affinity for toluidine blue and crystal violet&#46; With Congo red stain&#44; amyloid adopts a dark orange tone showing birefringence and dichroism when observed under polarized light&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conclusions</span><p id="par0070" class="elsevierStylePara elsevierViewall">The case of a patient with amyloidosis diagnosed through specific stains in a vitreous sample&#44; having the baseline and unique expression of vitreous opacities is presented&#46; Due to the fact that ocular expressions of amyloidosis generally appear years after the onset of the disease&#44; the vitreous has not been regarded as a first option material in biopsies for diagnostic purposes&#46; However&#44; processing and staining these samples should be considered in patients with early presentation of vitreous opacities&#44; negative systemic biopsy results or atypical course of the disease&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Conflict of interests</span><p id="par0075" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors&#46;</p></span></span>"
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          "titulo" => "Introduction"
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    "fechaRecibido" => "2019-06-19"
    "fechaAceptado" => "2019-12-27"
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            0 => "Amyloidosis"
            1 => "Vitreous amyloidosis"
            2 => "Amyloid"
            3 => "Congo red stain"
            4 => "Crystal violet stain"
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          "palabras" => array:5 [
            0 => "Amiloidosis"
            1 => "Amiloidosis v&#237;trea"
            2 => "Amiloide"
            3 => "Rojo Congo"
            4 => "Cristal violeta"
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        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">A 35-year-old woman with progressive decrease of vision in both eyes and with no other associated symptoms&#44; manifested as the only antecedent&#44; the death of her brother due to amyloidosis&#46; The visual acuity was counting fingers at 30&#8239;cm in the right eye and 20&#47;70 in the left eye&#46; In ophthalmoscopy of the right eye&#44; a white&#44; homogeneous vitreous&#44; that was difficult to assess in detail&#44; was observed&#44; and in the left eye a whitish vitreous with band-like opacities in the cortical region&#46; Vitrectomy was performed in the right eye&#44; and a study with specific stains showed positive for amyloid material&#46;</p><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">A case is reported of amyloidosis diagnosed with specific stains in a vitreous sample for which the initial and only manifestation was the presence of vitreous opacities&#46; The processing of these samples should be considered in patients with family history&#44; early vitreous opacities&#44; negative results of systemic biopsy&#44; or atypical course of the disease&#46;</p></span>"
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        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Mujer de 35 a&#241;os con disminuci&#243;n progresiva de visi&#243;n en ambos ojos sin otros s&#237;ntomas asociados manifest&#243; como &#250;nico antecedente la muerte de su hermano por amiloidosis&#46; La agudeza visual fue de cuenta dedos a 30 cent&#237;metros en el ojo derecho y 20&#47;70 en el ojo izquierdo&#46; En la oftalmoscopia del ojo derecho se observ&#243; un v&#237;treo blanco&#44; homog&#233;neo que no permiti&#243; valorar detalles y en el ojo izquierdo un v&#237;treo blanquecino con opacidades en forma de bandas en la regi&#243;n cortical&#46; Se realiz&#243; vitrectom&#237;a en el ojo derecho y estudio con inmunotinciones que fueron positivos para material amiloide&#46;</p><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Publicamos un caso de amiloidosis diagnosticada con tinciones espec&#237;ficas en muestra v&#237;trea cuya manifestaci&#243;n inicial y &#250;nica fue la presencia de opacidades v&#237;treas&#46;</p><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">El procesamiento de estas muestras debe considerarse en pacientes con antecedentes familiares&#44; opacidades v&#237;treas tempranas&#44; resultados negativos de biopsia sist&#233;mica o curso at&#237;pico de la enfermedad&#46;</p></span>"
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        "etiqueta" => "&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Garc&#237;a Franco R&#44; Arias G&#243;mez A&#44; Garc&#237;a Roa M&#44; Ram&#237;rez Neria P&#44; Corredor Casas S&#46; Amiloidosis v&#237;trea como manifestaci&#243;n primaria de enfermedad&#58; reporte de caso&#46; Arch Soc Esp Oftalmol&#46; 2020&#59;95&#58;244&#8211;247&#46;</p>"
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          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Retinographies&#46; RE&#58; white and homogeneous vitreous that excludes posterior pole assessment&#46; LE&#58; whitish vitreous with band opacities predominantly in the cortical region&#46;</p>"
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          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">&#40;A&#41; Congo red stain showing characteristic amyloid deposits &#40;arrow tip&#41;&#46; &#40;B&#41; Large increase photomicrograph with crystal violet histochemical stain&#44; showing the typical amyloid metachromasia &#40;arrow tip&#41;&#46; &#40;C&#41; Image under polarized light of the vitreous biopsy of the patient&#44; evidencing apple green color birefringence typical of amyloid &#40;arrow tip&#41;&#46;</p>"
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ISSN: 21735794
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