Journal of the Korean Ophthalmological Society 1996;37(8):1389-1396.
Published online August 1, 1996.
Clinical Manifestations of Leber's Hereditary Optic Neuropathy with 11778 mtDNA Mutation.
Seong Joon Kim, Jeong Min Hwang, Hye Won Park
1Department of Ophthalmology, Boramae Seoul Clty Hospital, Seoul, Korea.
2Department of Pediatrics, Boramae Seoul City Hospital, Seoul, Korea.
11778 mtDNA 돌연변이를 가진 Leber씨 유전성 시신경병증의 임상적 고찰
김성준(Seong Joon Kim),황정민(Jeong Min Hwang),박혜원(Hye Won Park)
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.
Key Words: Leber's hereditary optic neuropathy;Mitochondrial DNA;minkal manifestations


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