Novel Bilateral Geographic Atrophy Phenotype Associated With <i>CRX</i> Mutation

<b>Purpose:</b> To describe an atypical phenotype of retinal dystrophy in the setting of a heterozygous missense mutation (<i>CRX</i>-RD). <b>Methods:</b> The case is a 71-year-old woman previously diagnosed with advanced, non-neovascular, nonexudative age-related macular degeneration (AMD) who presented with longstanding blurry vision for consideration of intravitreal anti-complement factor therapy. <b>Results:</b> 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 <i>CRX</i>, the NM_000554.6(CRX) variant c.128G>A (p.Arg43His) (RCV001228802.6). Although <i>CRX</i>-RD is known to have phenotypic heterogeneity, cases with macular atrophy most commonly display bullseye maculopathy or benign concentric annular macular dystrophy. <b>Conclusions:</b> This case presenting with bilateral GA is consistent with a novel phenotype associated with a pathogenic variant of <i>CRX</i> and is an atypical presentation of RD simulating AMD.