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Article

A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.

Journal of neurology - 1 Oct 2015

Ahmad K E, Davis R L, Sue C M

Abstract excerpt

Pathogenic mutations in the OPA1 gene can be associated with Autosomal Dominant Optic Atrophy (ADOA). In approximately 20 % of patients with OPA1 mutations, a more complex neurodegenerative disorder with extraocular manifestations, known as ADOA Plus, can arise. 12 members of a multigenerational family were assessed clinically and screened for a genetic mutation in OPA1. Eight family members displayed...

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Source

Identifiers

PMID: 26194196
DOI: 10.1007/s00415-015-7849-6

Genes

OPA1

Variants

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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