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Journal of the Korean Neurological Association 1998;16(1): 95-98.
분자유전학적방법에 의해 확진된 Leber씨 유전성 시신경병증 2예.
김응규, 김종환, 김상진, 예종수, 김성은, 허 경 원인건*, 황정민**.
인제대학교 의과대학 신경과학교실, 안과학교실*, 서울시립보라매병원 안과**
2 Cases of Leber's Hereditory Optic Neuropathy Confirmed by Molecular Genetics.
Oeung-Kyu Kim, M.D., Jong-Hwan Kim, M.D., Sang-Jin Kim, M.D. Jong-Soo Ye, M.D., Sung Eun Kim, M.D., Kyoung Heo, M.D., In-Gun Won, M.D.*, Jeong-Min Hwang, M.D.**
Department of Neurology & Ophthalmology*, Inje University, College of Medicine Department of Ophthalmology, Borame Seoul City Hospital**
Abstract
Leber's Hereditary Optic Neuropathy(LHON) is a maternally inherited disorders that occurs primarily in young males and is characterized by subacute, sequential, bilateral central visual loss, ultimately, optic atrophy. We report 2 cases of molecularly confirmed LHON which reveal 11778 and 14484 mitochondral DNA mutation, respectively but there is no family history of visual loss. So the diagnosis of LHON deserves to be considered in all crypotogenic cases of acute or subacute optic or chiasmal neuropathy. Late or early age at onset, female gender, and a negative family history should not be dissuasive.
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Leber’s Hereditary Optic Neuropathy with Dystonia Caused by mtDNA 11778 Mutation  2000 ;18(2)