A Mitochondrial Mutation in Leber's Hereditary Optic Neuropathy.
- Author:
Jeong Min HWANG
1
;
Hye Won PARK
Author Information
1. Department of Ophthalmology, Seoul City Boramae Hospital, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Leber's hereditary optic neuropathy;
mitochondrial DNA;
Wallace mutation
- MeSH:
Adenine;
Adolescent;
Diagnosis;
DNA, Mitochondrial;
Guanine;
Humans;
Korea;
Male;
Optic Atrophy;
Optic Atrophy, Hereditary, Leber*;
Optic Nerve Diseases;
Optic Neuritis
- From:Journal of the Korean Ophthalmological Society
1995;36(12):2218-2224
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxynucleic acid(mtDNA). We identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide position 11778(Wallace mutation)in a 13 year old boy. To our knowldge, this is the first report confirming mtDNA mutation in Korea. This would be very helpful for the correct diagnosis of optic neuritis, optic neuropathy and optic atrophy of unknown etiology as well as for genetic counselling in the future.
