Korean J Ophthalmol > Volume 14(1); 2000 > Article
Korean Journal of Ophthalmology 2000;14(1):45-48.
DOI: https://doi.org/10.3341/kjo.2000.14.1.45    Published online June 30, 2000.
A family with Leber's hereditary optic neuropathy with mitochondrial 11778/ND4 and 4216/ND1 mutations.
J M Hwang
Department of Ophthalmology, Seoul Municipal Boramae Hospital, College of Medicine Seoul National University, Korea.
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.
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