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Article

First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Dec 2013

Galvez-Ruiz Alberto, Neuhaus Christine, Bergmann Carsten, Bolz Hanno

Abstract excerpt

BACKGROUND: Fifty to 60% of patients with dominant optic atrophy (DOA) have mutations of the OPA1 gene, which encodes dynamin-related GTPase, a protein of the internal mitochondrial membrane. To date, more than 200 OPA1 mutations in the OPA1 gene have been described. However, DOA is genetically heterogeneous with certain families linked to other chromosomal loci, that is, OPA3, OPA4, OPA5, and OPA7. METHODS: This...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24051421
DOI: 10.1097/WNO.0b013e31829ffb9a

Genes

OPA1
OPA3

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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