Clinical Manifestations of Leber's Hereditary Optic Neuropathy with 11778 mtDNA Mutation.
- Author:
Seong Joon KIM
1
;
Jeong Min HWANG
;
Hye Won PARK
Author Information
1. Department of Ophthalmology, Boramae Seoul Clty Hospital, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Leber's hereditary optic neuropathy;
Mitochondrial DNA;
minkal manifestations
- MeSH:
DNA, Mitochondrial*;
Humans;
Korea;
Optic Atrophy;
Optic Atrophy, Hereditary, Leber*;
Phenotype
- From:Journal of the Korean Ophthalmological Society
1996;37(8):1389-1396
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxynucleic acid(mtDNA) and accounts for 30% of bilateral optic atrophy of unknown etiology. The authors found 11778 mtDNA mutation in 12 patients and evaluated the clinical manifegtations. We confirmed various phenotypes exist in Leber's hereditary optic neuropathy in Korea.
