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Article

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.

European journal of human genetics : EJHG - 1 Dec 2003

Barbet Fabienne, Gerber Sylvie, Hakiki Sélim, Perrault Isabelle, Hanein Sylvain, Ducroq Dominique, Tanguy Gaëlle, Dufier Jean-Louis, Munnich Arnold, Rozet Jean-Michel, Kaplan Josseline

Abstract excerpt

In contrast to the frequent dominant optic atrophies (DOAs) in which the neuropathy is usually an isolated event, isolated recessive optic atrophies (ROAs) are very uncommon and have been described as severe congenital or early infantile conditions. To date, two loci for isolated DOA have been mapped, of which one was ascribed to mutations in the OPA1 gene. Conversely, no isolated autosomal ROA locus had...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14508503
DOI: 10.1038/sj.ejhg.5201070

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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