Korean J Ophthalmol.  2000 Jun;14(1):45-48. 10.3341/kjo.2000.14.1.45.

A family with Leber's hereditary optic neuropathy with mitochondrial 11778/ND4 and 4216/ND1 mutations

• Hwang JM

• KMID: 754273
• DOI: http://doi.org/10.3341/kjo.2000.14.1.45

Abstract

Leber's hereditary optic neuropathy (LHON) is caused by a point mutation in the mitochondrial deoxynucleic acid (mtDNA) and accounts for 30+ACU- of bilateral optic atrophy of unknown etiology. The authors found a Korean family with mtDNA mutations in the nucleotide positions (np) 11778 and np 4216. This is the first report confirming a secondary mtDNA np 4216 mutation in Koreans, as well as the first report of a Korean family harboring both primary and the secondary mutations that the authors are aware of.

MeSH Terms

Adolescence
Adult
Alleles+ACo-
Case Report
Cytochrome b/metabolism
Cytochrome b/genetics+ACo-
Cytochrome-c Oxidase/metabolism
Cytochrome-c Oxidase/genetics+ACo-
DNA Mutational Analysis
DNA, Mitochondrial/genetics+ACo-
Human
Male
Optic Atrophies, Hereditary/genetics+ACo-
Optic Atrophies, Hereditary/enzymology
Pedigree
Point Mutation+ACo-
Polymerase Chain Reaction
Visual Acuity