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Article

RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jul 2003

Nakamura Makoto, Skalet Jason, Miyake Yozo

Abstract excerpt

The aim of this study was to analyze the RDH5 gene in patients with fundus albipunctatus with and without macular dystrophy, and correlate the identified mutations with the electrophysiological results. Twenty-one patients from 19 unrelated Japanese families with fundus albipunctatus were examined. Ten unrelated patients had macular dystrophy. In 18 patients, either a homozygous or a compound heterozygous...

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Source

Identifiers

PMID: 12906118
DOI: 10.1023/a:1024498826904

Genes

RDH5
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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