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Article

OPA1 analysis in an international series of probands with bilateral optic atrophy.

Acta ophthalmologica - 1 Jun 2017

Liskova Petra, Tesarova Marketa, Dudakova Lubica, Svecova Stepanka, Kolarova Hana, Honzik Tomas, Seto Sharon, Votruba Marcela

Abstract excerpt

PURPOSE: To determine the molecular genetic cause in previously unreported probands with optic atrophy from the United Kingdom, Czech Republic and Canada. METHODS: OPA1 coding regions and flanking intronic sequences were screened by direct sequencing in 82 probands referred with a diagnosis of bilateral optic atrophy. Detected rare variants were assessed for pathogenicity by in silico analysis. Segregation of the...

Topics

Canada
Czech Republic
DNA
DNA Mutational Analysis
Female
GTP Phosphohydrolases
Genetic Techniques
Heterozygote
Humans
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Optic Atrophy, Autosomal Dominant

Pedigree

Phenotype

United Kingdom

Source

Identifiers

PMID: 27860320
DOI: 10.1111/aos.13285

Genes

OPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-27860320-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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