A Mitochondrial Mutation in Leber's Hereditary Optic Neuropathy.

Hwang, Jeong Min; Park, Hye Won

Original Article

Journal of the Korean Ophthalmological Society 1995;36(12):2218-2224.
Published online December 1, 1995.

A Mitochondrial Mutation in Leber's Hereditary Optic Neuropathy.

¹Department of Ophthalmology, Seoul City Boramae Hospital, Seoul, Korea.
²Department of Pediatrics, Seoul City Boramae Hospital, Seoul, Korea.

Leber 씨 유전성 시신경병증 환자에서 확인된 미토콘드리아의 돌연변이

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). 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.

Key Words: Leber's hereditary optic neuropathy;mitochondrial DNA;Wallace mutation