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Article

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.

Ophthalmic genetics - 1 Oct 2018

Li Huajin, Jones Evan M, Li Hui, Yang Lizhu, Sun Zixi, Yuan Zhisheng, Chen Rui, Dong Fangtian, Sui Ruifang

Abstract excerpt

BACKGROUND: Autosomal-dominant optic atrophy (ADOA) is one of the most common types of inherited optic atrophy. We identify OPA1 pathogenic variants and assess the clinical features of a cohort of Chinese ADOA patients Materials and Methods: Detailed clinical evaluations were performed and genomic DNA was extracted from peripheral blood for all the participants. Sanger sequencing was used to analyze all exons and...

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Source

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Identifiers

PMID: 29952689
DOI: 10.1080/13816810.2018.1466337
PMCID: PMC6239416

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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