J Korean Ophthalmol Soc.
1996 Aug;37(8):1389-1396.
Clinical Manifestations of Leber's Hereditary Optic Neuropathy with 11778 mtDNA Mutation
- Affiliations
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- 1Department of Ophthalmology, Boramae Seoul Clty Hospital, Seoul, Korea.
- 2Department of Pediatrics, Boramae Seoul City Hospital, Seoul, Korea.
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.
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