Unique retinal phenotype may support pathogenicity of FSCN2 in inherited retinal degenerations: a case report and review of the literature.

Ophthalmic GenetAug 26, 2026 (epub)
Case ReportOphthalmology

Caroline L Sherman, Alexander Sumaroka, Alejandro J Roman et al.

✦ AI-curated · Sources linked

Case in brief

A 67-year-old man presented with blurred vision for 20 years, with visual acuities of 20/150 in both eyes. Examination revealed a ceco-central area of pigmentary changes and severe photoreceptor outer nuclear layer loss on SD-OCT. Genetic testing identified a missense mutation in the FSCN2 gene, correlating with a cone-rod dystrophy phenotype and supporting the pathogenicity of this variant.

Diagnostic / clinical pearl

Clinicians should consider genetic testing for FSCN2 mutations in patients presenting with cone-rod dystrophy and characteristic retinal phenotypes.

Source

PubMed · PMID 42649536

Published in Ophthalmic Genet. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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