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Article

A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.

American journal of ophthalmology - 1 Nov 2000

Kuroiwa S, Kikuchi T, Yoshimura N

Abstract excerpt

PURPOSE: To report a novel compound heterozygous mutation in the 11-cis retinol dehydrogenase (RDH5) gene in a patient with fundus albipunctatus. METHOD: We examined the RDH5 gene genotype in members of a Japanese family. Clinical examination showed that the proband had fundus albipunctatus and his aunt had retinitis pigmentosa. The RDH5 gene was analyzed by direct genomic sequencing. RESULTS: The proband had a...

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Source

Identifiers

PMID: 11078852
DOI: 10.1016/s0002-9394(00)00765-0

Genes

RDH5

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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