The Pedigree Study of Leber's Hereditary Optic Neuropathy in Korean Population.

doi:10.1080/08820538.2025.2588702

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Article

The Pedigree Study of Leber's Hereditary Optic Neuropathy in Korean Population.

Seminars in ophthalmology - 1 Aug 2026

Ha Dong Hee, Kim Ungsoo Samuel

Abstract excerpt

PURPOSE: To investigate the pedigree-based penetrance analysis in Korean Leber hereditary optic neuropathy (LHON). METHODS: The pedigrees of 32 LHON patients' families were thoroughly examined. Index patients were probands diagnosed by mitochondrial DNA (mtDNA) mutation at the position of 11,778 or 11,484, while secondary cases were affected relatives ascertained through index cases. We identified susceptible and...

Topics

Adolescent
Adult
Aged
Child
Female
Humans
Male
Middle Aged
Young Adult
DNA Mutational Analysis
DNA, Mitochondrial
Genetic Predisposition to Disease
Mutation
Optic Atrophy, Hereditary, Leber
Pedigree
Penetrance
Republic of Korea
East Asian People

Source

Open in PubMed

Identifiers

PMID: 41236774
DOI: 10.1080/08820538.2025.2588702

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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