J Korean Ophthalmol Soc.  1995 Dec;36(12):2218-2224.

A Mitochondrial Mutation in Leber's Hereditary Optic Neuropathy

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

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.

Keyword

Leber's hereditary optic neuropathy; mitochondrial DNA; Wallace mutation

MeSH Terms

Adenine
Adolescent
Diagnosis
DNA, Mitochondrial
Guanine
Humans
Korea
Male
Optic Atrophy
Optic Atrophy, Hereditary, Leber*
Optic Nerve Diseases
Optic Neuritis
Adenine
DNA, Mitochondrial
Guanine
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