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Article

PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.

Ophthalmic genetics - 1 Apr 2022

Choi Hanna, Cloutier Alan, Lally David

Abstract excerpt

Peripherin-2 (PRPH2) gene variants are a well-established cause of multiple inherited maculopathies including central areolar choroidal dystrophy (CACD) and pattern dystrophy. In this familial case study, we present a 63-year-old proband who presented with visual acuity of 20/63 right eye and 20/100 left eye with a complaint of lowered visual acuity in the left eye for unknown duration. Fundus examination...

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Identifiers

PMID: 34906036
DOI: 10.1080/13816810.2021.2015790

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