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Article

Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 2020

Ahn Ye Jin, Park Yooyeon, Shin Sun Young, Chae Hyojin, Kim Myungshin, Park Shin Hae

Abstract excerpt

PURPOSE: We sought to identify the phenotypic and genotypic characteristics of Korean children with genetically confirmed Leber's hereditary optic neuropathy (LHON). METHODS: The medical records of 64 genetically confirmed LHON patients were reviewed. Seventeen patients aged 13 years or younger with optic atrophy with positive mitochondrial DNA (mtDNA) mutations were considered to demonstrate childhood-onset...

Topics

DNA, Mitochondrial
Humans
Mutation
Optic Atrophy, Hereditary, Leber
Republic of Korea
Visual Acuity
Visual Fields

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32506279
DOI: 10.1007/s00417-020-04757-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-32506279-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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