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Article

Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.

Ophthalmic genetics - 1 Dec 2003

Gränse Lotta, Bergstrand Ingar, Thiselton Dawn, Ponjavic Vesna, Heijl Anders, Votruba Marcela, Andréasson Sten

Abstract excerpt

OBJECTIVE: To characterize the clinical phenotype, with emphasis on electrophysiology and blood flow measurements, of a family with dominant optic nerve atrophy and an identified mutation in the OPA1 gene. METHODS: Seven family members were examined. Ophthalmological evaluation included testing o...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Optic Atrophy, Autosomal Dominant

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Source

Identifiers

PMID: 14566653
DOI: 10.1076/opge.24.4.233.17230

Genes

OPA1
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14566653-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.PMID 14566653Read ↗

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