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Article

Macular dystrophy in a 9-year-old boy with fundus albipunctatus.

American journal of ophthalmology - 1 Feb 2002

Nakamura Makoto, Miyake Yozo

Abstract excerpt

PURPOSE: To report a 9-year-old boy with fundus albipunctatus and macular dystrophy. DESIGN: Observational case report. METHODS: A complete ophthalmic examination was performed. The 11-cis retinol dehydrogenase gene (RDH5) was examined by direct genomic sequencing. RESULTS: The fundi of the 9-year-old boy showed numerous yellow-white punctata as well as foveal atrophic lesions in both eyes. His corrected visual...

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Source

Identifiers

PMID: 11812441
DOI: 10.1016/s0002-9394(01)01304-6

Genes

RDH5

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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