Retinal Physician

JAN-FEB 2017

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27 R E T I N A L P H Y S I C I A N | M A Y 2 0 1 3 27 Gass first classified pattern dystrophies, which represent a group of autosomal dominant maculopathies involving pig- mentary abnormalities. 9 ey generally carry a more favorable prognosis than AMD. Multifocal pattern dystrophy simulating fundus flavimacu- latus Multifocal pattern dystrophy simulating fundus flavimacula- tus (Figure 2) is one of five main pattern dystrophy categories that Gass classified. 9 Patients develop mild-to-moderate visual disturbances in midlife which progress to severe vision loss in up to 50% of patients after the age 70 due to atrophy of the RPE-photoreceptor complex and/or development of choroidal neovascularization. 10 Early in the course of the disease, patients have nonspecific pigmentary changes. 4 Subsequently, they develop a variable number of irregularly shaped and/or elgon- gated, yellow-white flecks throughout the posterior pole and around retinal vascular arcades. 10 FA reveals staining of these lesions and FAF demonstrates significantly increased autofluo- rescence of the flecks with a small, adjacent zone of decreased autofluorescence. 10 Macular OCT shows moderately reflective deposits just anterior to the ellipsoid zone. 11 Most patients have an abnormal electrooculogram and 50% have an abnormal ERG. 10 Genetic testing can reveal a peripherin/RDS mutation but other mutations have been associated with this pathology. 10 Adult-onset foveomacular vitelliform dystrophy Adult-onset foveomacular vitelliform dystrophy (Figure 3), another pattern dystrophy, typically presents with mild visual disturbances between 30 and 50 years of age. 12 Vitelliform lesions are hyperautofluorescent on FAF and hypofluorescent on early FA frames with later staining. 13,14 Macular OCT reveals a dome-shaped hyperreflective area between the RPE and ellipsoid zone. 12,15 Genetic testing classically identifies a mutation in the peripherin 2 (PRPH2) gene, but other genetic mutations have been associated. 13 Cone-rod dystrophy Cone-rod dystrophy (Figure 4) typically presents during child- hood with poor VA and severe color-vision loss. 16 Fundus appearance can range from normal to a bull's eye maculopathy with temporal pallor of the optic nerve. 16 Goldman visual fields reveal a central scotoma. 16 Full-field ERG, which is necessary for diagnosis, demonstrates progressively deteriorating cone amplitudes with comparatively normal rod amplitudes. 16 Hydroxychloroquine toxicity Hydroxychloroquine is used for many rheumatologic disor- ders. e toxicity risk is very low in patients who consume less than 5.0 mg/kg of real body weight and who have been on therapy for less than 10 years. 17 When toxicity develops R E T I N A L P H Y S I C I A N | J A N U A R Y / F E B R U A R Y 2 0 1 7 Figure 2. is 38-year-old, asymptom- atic male was referred for bilateral maculopathy. VA measured 20/20 BE. Fundus examination revealed numerous elongated yellow flecks that were hyper- autofluorescent on FAF (Figures A and B). FA identified early, mild choroidal silence and staining of the yellow flecks (Figure C). Considering the excellent VA and lack of beaten bronze fundus appearance, Stargardt's disease was ruled out and the diagnosis of multifocal paern dystrophy simulating fundus flavimaculatus was made. Figure 3. is 85-year-old, glaucomatous female was referred with a one-month his- tory of bilateral blurring of central vision. VA measured 20/200 RE and 20/30 LE and fundus examination revealed bilateral yellow foveal lesions with pigment clump- ing (Figure A). FA demonstrated central blocking defects in early frames without staining or leakage (Figure B). Red-free photographs provided great contrast of the lesions (Figure C). Her findings and symptoms were consistent with adult- onset foveomacular vitelliform dystrophy. A C B A B C Figure 4. is 78-year-old male was referred with a one- year history of pro- gressive, bilateral central blurring. VA measured 20/40 RE and count fingers LE. Fundus examination revealed bilat- eral generalized RPE atrophy with optic nerve pallor LE, and FA demonstrated staining in a bull's eye paern (Figures A and C). Macular OCT identified bilateral outer retinal and RPE atrophy, and an epiretinal membrane RE (Figure B). e patient denied a history of hydroxychlo- roquine or chloroquine use. Cone-rod dystrophy was suspected and then confirmed when ERG showed a broadly diminished wave-form that was worse under photopic conditions. A C B

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