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Article

Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.

Ophthalmic research - 1 Jan 2000

Hayashi Takaaki, Gekka Tamaki, Omoto Satoshi, Takeuchi Tomokazu, Kitahara Kenji

Abstract excerpt

Dominant optic atrophy (DOA) is the most common form of inherited primary optic neuropathy. The purpose of the current study was to report a novel OPA1 splice site mutation and investigate the impact of the mutation on pre-mRNA splicing in a female proband and her father diagnosed with DOA. We evaluated visual acuity, retinal fundi and kinetic visual fields. Color vision phenotypes were determined using the...

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Source

Identifiers

PMID: 16006781
DOI: 10.1159/000086862

Genes

OPA1

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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