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Unifocal and unilateral pigmented paravenous retinochoroidal atrophy
Atrofia coriorretiniana pigmentada paravenosa de presentación unifocal y unilateral
J.C. Castaño Silosa, I. Sanchez-Guillena,b,
Corresponding author
inessanchezguillen@gmail.com

Corresponding author.
, I. Almorín-Fernández-Vigob, M. Jerez Fidalgoa, J.I. Fernández-Vigoc,d
a Departamento de Oftalmología, Hospital Perpetuo Socorro, Badajoz, Spain
b Centro Internacional de Oftalmología Avanzada, Badajoz, Spain
c Centro Internacional de Oftalmología Avanzada, Madrid, Spain
d Departamento de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Paravenous pigmented chorioretinal atrophy</span> &#40;PPCRA&#41; was described in 1937 by Brown<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> as an entity characterised by areas of retinal atrophy and pigment accumulation in areas close to the venous arcades&#46; PPCRA has been given multiple names such as retinochoroiditis radiate&#44;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> striated&#44; congenital retinal pigmentation&#44; pigmented paravenous chorioretinal atrophy and&#44; more recently&#44; PPCRA&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">This entity usually occurs sporadically&#44; although familial cases have been described and the etiology is unknown&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Several etiopathogenic mechanisms have been proposed&#44; such as a primary dysfunction of the retinal pigment epithelium or the development of retinal vessel abnormalities&#46; Associations have been described with systemic inflammatory pathology&#44; such as Beh&#231;et&#39;s disease&#59; infectious&#44; such as rubella&#44; tuberculosis or syphilis&#59; and genetic alterations&#44; such as mutation in the CRX gene&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The diagnosis of PPCRA is primarily clinical&#44; based on the characteristic fundus appearance&#46; Regarding complementary tests&#44; autofluorescence shows large areas of hypoautofluorescence with distinct borders in the atrophic zone&#46; Fluorescein angiography reveals transmitted hyperfluorescence or chorioretinal atrophy&#44; depending on the severity of the lesion&#44; without fluorescein leakage&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> In electroretinograms &#40;ERG&#41;&#44; reduced B-wave amplitude is the most common alteration&#44; followed by reduced A-wave amplitude and delayed latency&#46; Visual field changes depend on pigment distribution and atrophy&#44;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> while on optical coherence tomography &#40;OCT&#41; the inner retinal layers may be spared or show significant thinning&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Recent work with angio-OCT &#40;OCTA&#41; has contradictory results regarding decreased choroidal perfusion&#46;<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5&#44;6</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">PPCRA is usually bilateral and symmetrical with variable expressivity&#46; Few cases are asymmetric or unilateral<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#44;7</span></a> like the one presented below&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical case</span><p id="par0025" class="elsevierStylePara elsevierViewall">A 50-year-old woman of African origin attended the emergency department with pain and progressive decrease in left eye vision &#40;LE&#41;&#46; Her personal history included rheumatoid arthritis&#44; sickle cell disease and intestinal malabsorption syndrome&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Examination revealed visual acuity of 20&#47;20 in the right eye and 1&#47;20 in the right eye&#46; Slit-lamp examination of the anterior segment showed marked hyperemia in the inferior bulbar conjunctiva of the right eye&#44; with congestion of the scleral vessels&#44; compatible with diffuse scleritis&#46; the LE fundus showed a lamellar macular hole &#40;LMH&#41; and atrophy-hypertrophy lesions of the retinal pigment epithelium around the inferior temporal venous arcade&#44; with significant pigment mobilisation in the form of bony spicules&#44; extending to the posteroquatorial retina &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">Additional tests include fundus autofluorescence&#44; which showed a hypoautofluorescent image with well-defined borders in the area of the lesion &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>D&#41;&#46; Fluorescein angiography showed hyperfluorescence compatible with degeneration of the retinal pigment epithelium&#44; blockage of fluorescence in the areas of pigment accumulation along the retinal vessels and repletion defects in some vessels compatible with partial occlusions&#46; No fluorescein leakage could be observed &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>C&#41;&#46; An OCT was performed and confirmed the funduscopic image of LMH &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>D&#41;&#46; The visual field revealed a generalised decrease in sensitivity with an altitudinal defect in the superior hemifield compatible with the LE retinal lesion &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>A&#41;&#46; Finally&#44; electrophysiological tests showed latencies&#44; amplitudes and morphology within normal limits in the structured stimulus &#40;pattern&#41; visual evoked potentials&#46; The pattern ERG &#40;ERG-P&#41; shows decreased amplitudes and a normal N95&#47;P50 ratio&#44; and the ERG-Ganzfeld &#40;ERG-G&#41; also showed a significant reduction in the amplitude of the responses of the different scotopic and photopic phases&#44; congruent with a macular lesion due to LMH&#46; The right eye showed no alterations in visual evoked potentials -P or ERG &#40;P or G&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">The patient was diagnosed with unilateral PPCRA and diffuse scleritis in the left eye&#46; Treatment was prescribed with oral corticosteroids and infliximab for the scleritis and follow-up by Ophthalmology and Rheumatology&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0045" class="elsevierStylePara elsevierViewall">PPCRA is an entity characterised primarily by its typical funduscopic appearance of symmetrical&#44; bilateral pigment accumulation and chorioretinal atrophy distributed along the retinal veins&#44; starting at some distance from the optic nerve head&#46; Pigmentation is typically in bony spicule&#46; Due to morphological similarities with retinitis pigmentosa &#40;RP&#41; &#40;especially the pericentral&#44; sectorial and atypical types&#41;&#44; PPCRA has sometimes been described as a variant of this disease&#46; However&#44; unlike PPCRA&#44; in RP nyctalopia and campimetric involvement are present and tend to progressively worsen&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Vascular sclerosis and alterations in the papilla and macula<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> typical of RP are also absent in PPCRA&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">Other differential diagnoses include helical peripapillary chorioretinal atrophy&#44; serpiginous choroidopathy&#44; angioid streaks&#44; cone dystrophy&#44; Stickler syndrome&#44; choroideremia due to gyrate atrophy&#44; Wagner&#39;s dominant vitreoretinal degeneration&#44; sarcoidosis&#44; syphilis&#44; acute retinal necrosis&#44; cytomegalovirus retinitis&#44; tuberculous disseminated choroiditis&#44; onchocerciasis&#44; toxoplasmosis&#44; frosted branch angeitis and various disorders called pseudoretinitis pigmentosa&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">PPCRA usually presents asymptomatically and is generally detected incidentally&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> It does not affect vision&#44; except in specific cases where central vision may be slightly impaired&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> However&#44; in the present case&#44; the patient was not asymptomatic as she reported decreased visual acuity caused by LMH and pain due to the accompanying scleritis&#46; The work of Xiang and Wei<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> presents a case of PPCRA with LMH with very low vision attributed to the significant atrophy of the nerve fibre layer on OCT&#46; Similar to the work of Xiang and Wei&#44;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> the patient in our case had LMH with very low vision&#44; which can be attributed to atrophy of the ganglion cell layer seen on OCT &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>E&#41;&#46; In addition to LMH&#44; other macular changes have been described in the literature including&#58; cystoid macular edema&#44; exudates&#44; epiretinal membrane&#44; central areolar macular atrophy and macular coloboma&#46; It is not known whether these macular changes are associated with the disease phenotype or are independent&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">The appearance of these lesions unilaterally and unifocally&#44; as in the case of our patient&#44; is extremely unusual and there are only 3 cases published in the literature&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#44;7&#44;9</span></a> The 3 published cases are females &#40;as in the present case&#41; of varying ages &#40;from 23 to 79 years&#41;&#46; In all cases the presentation was sporadic and one case included a family history of the disease&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> Visual acuities varied from 20&#47;20 to 20&#47;40 and in one case it was associated with bilateral epiretinal membrane&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">There is no treatment for PPCRA&#44; except for associated complications&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Prognostically&#44; PPCRA lesions do not usually progress unlike RP&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Some cases of very slow ERG and visual field progression have been reported&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> However&#44; more studies and longer follow-up of these unilateral and unifocal cases are needed to rule out the possibility of other lesions appearing in the fellow eye&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conclusion</span><p id="par0070" class="elsevierStylePara elsevierViewall">PPCRA is a rare bilateral retinal degeneration&#44; typically asymptomatic and non-progressive&#44; characterised by atrophy of the retinal pigment epithelium&#44; choroid and outer retinal layers&#46; It can be associated with other ocular disorders and systemic inflammatory diseases&#44; and its unilateral and unifocal presentation as in the present case is extremely unusual&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Conflict of interest</span><p id="par0075" class="elsevierStylePara elsevierViewall">No conflicts of interest were declared by the authors&#46;</p></span></span>"
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            0 => "Atrofia coriorretiniana pigmentada paravenosa"
            1 => "Atrofia retinocoroidea pigmentada paravenosa"
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        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Paravenous pigmented chorioretinal atrophy &#40;PPRCA&#41; is a generally multifocal&#44; bilateral and symmetric rare entity associated with autoimmune diseases and other ocular complications&#46;</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">We present the clinical case of a patient with rheumatoid arthritis who attended for pain of several days&#46; He presented decreased visual acuity of the left eye &#40;LE&#41;&#44; nodular scleritis and chorioretinal atrophy with pigment accumulation in bone spicules in the inferior temporal vascular arcade and lamellar macular hole &#40;AML&#41;&#46; The right eye shows no alterations&#46; LE autofluorescence &#40;AF&#41; shows a hypoautofluorescence lesion with defined edges&#46; Fluorescein angiography &#40;FAG&#41; shows hyperfluorescence consistent with retinal pigmentary epithelial degeneration and blockage in pigment areas&#46; The visual field &#40;VC&#41; reveals a defect in the superior hemifield&#46;</p><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">This case describes an atypical unifocal and unilateral PPRCA&#46; This variant must be known to make a correct differential diagnosis&#44; as well as to provide adequate prognostic information&#46;</p></span>"
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        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">La atrofia coriorretiniana pigmentada paravenosa &#40;PPRCA&#41; es una entidad infrecuente&#44; asociada a enfermedades autoinmunes y otras complicaciones oculares&#44; generalmente multifocal&#44; bilateral y sim&#233;trica&#46;</p><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Se presenta el caso cl&#237;nico de una paciente con artritis reumatoide que acude por dolor de varios d&#237;as&#46; Presenta disminuci&#243;n de agudeza visual de ojo izquierdo &#40;OI&#41;&#44; escleritis nodular y atrofia coriorretiniana con acumulaci&#243;n de pigmento en esp&#237;culas &#243;seas en arcada vascular temporal inferior y agujero macular lamelar &#40;AML&#41;&#46; El ojo derecho no presenta alteraciones&#46; La autofluorescencia &#40;AF&#41; del OI muestra hipoautofluorescencia de bordes definidos en la lesi&#243;n&#46; La angiograf&#237;a con fluoresce&#237;na &#40;AFG&#41; evidencia hiperfluorescencia compatible con degeneraci&#243;n del epitelio pigmentario retiniano y bloqueo en las &#225;reas de pigmento&#46; El campo visual &#40;CV&#41; revela un defecto altitudinal en hemicampo superior&#46;</p><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Este caso describe una PPRCA at&#237;pica unifocal y unilateral&#46; Se debe conocer esta variante para realizar un correcto diagn&#243;stico diferencial&#44; as&#237; como proporcionar una informaci&#243;n pron&#243;stica adecuada&#46;</p></span>"
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          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Colour fundus photograph and autofluorescence of both eyes&#46; The retinogram is unremarkable in the right eye &#40;A&#41;&#46; The left eye shows chorioretinal atrophy with pigment distribution following the inferior temporal arcade and a lamellar hole &#40;B&#41;&#46; The autofluorescence image of the right eye is unaltered &#40;C&#41; and the left eye shows a hypoautofluorescent area with defined borders in the area of the lesion &#40;D&#41;&#46;</p>"
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          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">24&#8211;2 computerised campimetry &#40;A and B&#41;&#46; The left eye &#40;despite poor reliability&#41; shows a generalised decrease in sensitivity with an almost complete defect in the superior hemifield congruent with the retinal lesion &#40;A&#41;&#46; The right eye shows patchy defects in the upper and lower nasal region due to artefacts caused by poor collaboration &#40;B&#41;&#46; Angiography of the left eye &#40;C&#41; shows hyperfluorescence compatible with degeneration of the retinal pigment epithelium and blockage of fluorescence in the areas of pigment accumulation along the inferior retinal vessels&#46; Macular OCT &#40;D and E&#41; shows a lamellar hole &#40;D&#41; and a decrease in the thickness of the ganglion cell layer&#44; especially in the inferior sector &#40;E&#41;&#46;</p>"
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ISSN: 21735794
Original language: English
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