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Article

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

Ophthalmology - 1 Aug 2011

Sergouniotis Panagiotis I, Sohn Elliott H, Li Zheng, McBain Vikki A, Wright Genevieve A, Moore Anthony T, Robson Anthony G, Holder Graham E, Webster Andrew R

Abstract excerpt

PURPOSE: To describe phenotypic variability and report novel mutational data in patients with mutation in RDH5 (fundus albipunctatus). DESIGN: Retrospective case series. PARTICIPANTS: Nine patients from 8 families (aged 7-55 years) with night blindness and electrophysiologic or fundoscopic findings in keeping with RDH5 mutation were ascertained. METHODS: Detailed ophthalmologic examination, fundus photography,...

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Source

Identifiers

PMID: 21529959
DOI: 10.1016/j.ophtha.2010.12.031

Genes

RDH5
ERG

Provenance

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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