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Article

eOPA1: an online database for OPA1 mutations.

Human mutation - 1 May 2005

Ferré Marc, Amati-Bonneau Patrizia, Tourmen Yves, Malthièry Yves, Reynier Pascal

Abstract excerpt

Autosomal dominant optic atrophy (ADOA), also known as Kjer disease, is characterized by moderate to severe loss of visual acuity with an insidious onset in early childhood, blue-yellow dyschromatopsia, and central scotoma. An optic atrophy gene, called OPA1, has been identified in most cases of the disease. A total of 83 OPA1 mutations, often family-specific, have been reported so far, and the observations...

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Source

Identifiers

PMID: 15832306
DOI: 10.1002/humu.20161

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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