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Article

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

American journal of ophthalmology - 1 Apr 2007

Cohn Amy C, Toomes Carmel, Potter Catherine, Towns Katherine V, Hewitt Alex W, Inglehearn Chris F, Craig Jamie E, Mackey David A

Abstract excerpt

PURPOSE: We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees. DESIGN: Cross-sectional genetics study. METHODS: Probands were identified on the b...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17306754
DOI: 10.1016/j.ajo.2006.12.038

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17306754-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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