Novel Bilateral Geographic Atrophy Phenotype Associated With CRX Mutation

Abstract

Purpose: To describe an atypical phenotype of retinal dystrophy in the setting of a heterozygous missense mutation (CRX-RD). Methods: A single case was reviewed. Results: A 71-year-old woman previously diagnosed with advanced, non-neovascular, nonexudative age-related macular degeneration (AMD) presented with longstanding blurry vision for consideration of intravitreal anti–complement factor therapy. Ophthalmic examination showed geographic atrophy (GA) in both eyes, without evidence of drusen or drusenoid deposits. Genetic panel testing revealed a pathogenic, heterozygous missense mutation in CRX, the NM_000554.6(CRX) variant c.128G>A (p.Arg43His) (RCV001228802.6). Although CRX-RD is known to have phenotypic heterogeneity, cases with macular atrophy most commonly display bullseye maculopathy or benign concentric annular macular dystrophy. Conclusions: This case presenting with bilateral GA is consistent with a novel phenotype associated with a pathogenic variant of CRX and is an atypical presentation of RD simulating AMD.