Work

Novel Bilateral Geographic Atrophy Phenotype Associated With CRX Mutation

Year: 2025

Type: article

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.

Source: Journal of VitreoRetinal Diseases

DOI: 10.1177/24741264251386364

Authors: Cory A. Christensen, Neha Gupta, Mark P. Breazzano

Institutions: SUNY Upstate Medical University, New York Eye and Ear Infirmary, Icahn School of Medicine at Mount Sinai, University of Rochester Medicine, University of Rochester

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Research to Prevent Blindness, State University of New York Upstate Medical University