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Article

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.

PloS one - 1 Jan 2017

Li Yadi, Li Jie, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Guo Xiangming

Abstract excerpt

Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children. The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes) and to analyze the genotype-phenotype...

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Source

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Identifiers

PMID: 28081242
DOI: 10.1371/journal.pone.0170090
PMCID: PMC5230780

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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