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Abstract #97975 Published in IGR 22-4
A mutation in causing pigmented paravenous retinochoroidal atrophy
Oh JK; Nuzbrokh Y; Lee W; Lima de Carvalho JR; Wang NK; Sparrow JR; Allikmets R; Tsang SHEuropean Journal of Ophthalmology 2022; 32: NP235-NP239
INTRODUCTION: Mutations in the cone-rod homeobox () gene, a known cause of inherited retinal dystrophy, are characterized by extensive phenotypic heterogeneity. We describe a novel presentation of rod-cone dystrophy (RCD) phenocopying pigmented paravenous retinochoroidal atrophy associated with a mutation in . CASE DESCRIPTION: A 53-year-old man and his 48-year-old brother presented with a history of progressive vision loss and nyctalopia. Fundus examination revealed a bull's eye lesion with chorioretinal atrophy and intraretinal pigment migration, while spectral-domain optical coherence tomography (SD-OCT) demonstrated retinal thinning with outer retinal atrophy. On short-wavelength autofluorescence (SW-AF) imaging, an atypical paravenous pattern of atrophy with a surrounding hyperautofluorescent border was observed. Full-field electroretinogram (ffERG) revealed a rod-cone pattern of dysfunction. A heterozygous pathogenic variant, c.119G>A:p.(Arg40Gln), in the gene was identified in both brothers and segregated in their family. CONCLUSION: This case report broadens the currently known phenotypic presentations of -associated retinopathy and suggests that mutations in may be associated with pigmented paravenous retinochoroidal atrophy.
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