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Article

Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2023

Soucy Megan, Kolesnikova Masha, Kim Angela H, Tsang Stephen H

Abstract excerpt

INTRODUCTION: Mutations in the peripherin-2 gene (PRPH2) are a common cause of inherited retinal dystrophies well known for their phenotypic diversity. We describe a novel presentation of the c.623G > A; p.(Gly208Asp) variant in association with cone-rod dystrophy and reduced penetrance. CASE DESCRIPTION: A 39-year-old man presents with a history of decreased visual acuity, photophobia, and dyschromatopsia....

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PMID: 36609934
DOI: 10.1007/s10633-022-09916-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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