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Article

A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy.

Ophthalmic surgery, lasers & imaging retina - 1 Jun 2020

Lee Chang Sup, Leys Monique

Abstract excerpt

The authors describe a family of three related individuals with a previously unreported mutation in the PRPH2 gene (C213W), which is associated with pattern dystrophy simulating fundus flavimaculatus. Four eyes later developed exudative maculopathy with choroidal neovascularization, which required injections of intravitreal anti-vascular endothelial growth factor (VEGF). This study reports the effectiveness of...

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Identifiers

PMID: 32579694
DOI: 10.3928/23258160-20200603-06

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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