| mtDNA 11778위치의 돌연변이를 가진 Leber씨 유전성 시신경병증과 Leber's plus : 임상적 양상과 유전학적 연구 |
| 권순억, 황정민, 박혜원, 강동화, 구자성, 이광우, 노재규 |
| 울산대학교 의대 신경과, 서울특별시립 보라매 병원 안과.소아과, 서울대학교 의대 신경과 |
| Leber's hereditary optic neuropathy(LHON) and leber's plus with mtDNA 11778 mutation : Clinical manifestations and a genealogic study |
| Sun Uck Kwon, M.D., Jeong-Min Hwang, M.D., Hye Won Park, M.D., Dong Wha Kang, M.D., Ja Seong Koo, M.D., Kwang Woo Lee, M.D., Jae-Kyu Roh, M.D. |
| Department of Neurology, College of Medicine, Ulsan University, Department of Ophthalmology & Pediatrics of Seoul City Boramae Hospital and Department of Neurology, College of Medicine, Seoul National University |
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| Abstract |
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Leber's hereditary optic neuropathy (LHON) is an important cause of bilateral optic neuropathy in youth and occasionally associated with other neurological abnormalities (Leber's plus). The authors recently found out one family of LHON and another patient of Leber's plus with mitochondrial DNA (mtDNA) 11778 mutation. The presence of a point mutation of mtDNA was investigated by restriction length fragment polymorphism. Among 14 patients who had mtDNA 11778 mutation in the family, only two men had bilateral optic neuropathy. The other was a man of optic neuropathy with myelopathy. The age at onset of visual loss ranged from 14 to 25 (average 19.7). The time delay between involvement of the two eyes was I to 3 months Central visual field defect was observed in each of all affected eyes and worse in the earlier affected. The brain MRI and CSF studies revealed no abnormality. This study showed that the clinical manifestations and genealogical features of LHON in our patients are similar to those of previously reported cases in other countries
Key Words : Leber's hereditary optic neuropathy, LHON, optic neuropathy,
Leber's plus, 11778 mutation |
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