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Article

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

Human mutation - 1 Jan 2015

Ferré Marc, Caignard Angélique, Milea Dan, Leruez Stéphanie, Cassereau Julien, Chevrollier Arnaud, Amati-Bonneau Patrizia, Verny Christophe, Bonneau Dominique, Procaccio Vincent, Reynier Pascal

Abstract excerpt

Autosomal-dominant optic atrophy (ADOA) is the most common inherited optic neuropathy, due to mutations in the optic atrophy 1 gene (OPA1) in about 60%-80% of cases. At present, the clinical heterogeneity of patients carrying OPA1 variants renders genotype-phenotype correlations difficulty. Since 2005, when we published the first locus-specific database (LSDB) dedicated to OPA1, a large amount of new clinical and...

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Identifiers

PMID: 25243597
DOI: 10.1002/humu.22703

Genes

OPA1

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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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