A mutation inCRXcausing pigmented paravenous retinochoroidal atrophy

Introduction: Mutations in the cone-rod homeobox (CRX) 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 inCRX. 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 theCRXgene was identified in both brothers and segregated in their family. Conclusion: This case report broadens the currently known phenotypic presentations ofCRX-associated retinopathy and suggests that mutations inCRXmay be associated with pigmented paravenous retinochoroidal atrophy.

Automated summary

This case report describes two brothers with progressive vision loss and night blindness, showing typical symptoms of pigmented paravenous retinochoroidal atrophy. Genetic analysis revealed a mutation in the CRX gene in both individuals.