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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Clinical Manifestations of Leber's Hereditary Optic Neuropathy with 11778 mtDNA Mutation
- A Case of Leber's Hereditary Optic Nouropathy Showing 11778 Point Mutation of Mitochondrial DNA
- Leber's Hereditary Optic Neuropathy with Mitochondrial DNA 11778 Mutation Presenting with Various Types of Seizures
- Leber's Hereditary Optic Neuropathy with Dystonia Caused by mtDNA 11778 Mutation
- Carbon monoxide poisoning as an epigenetic factor for Leber's hereditary optic neuropathy
