Optic Neuropathy Associated with Mitochondrial tRNA(Leu(UUR)) A->G(3243) Mutation.
- Author:
Seong Joon KIM
1
;
Jeong Min HWANG
;
Hye Won PARK
;
Seong Ho PARK
;
Han Bo LEE
Author Information
1. Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Mitochondrial tRNA(Leu(UUR)) A->G(3243) mutation;
Optic neuropathy
- MeSH:
Acidosis, Lactic;
Deafness;
Diabetes Mellitus;
Humans;
Korea;
Ophthalmoplegia, Chronic Progressive External;
Optic Nerve Diseases*
- From:Journal of the Korean Ophthalmological Society
1996;37(7):1241-1246
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Mitochondrial tRNA(Leu(UUR)) A->G(3243) mutation accounts for 80% of all patients with MELAS(mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes), diabetes mellitus with deafness and progressive external ophthalmoplegia. Optic neuropathy has rarely been reported to be associated with the mutation. We found optic neuropathy in two patients with the mutation. To our knowledge, this is the first case report of optic neuropathy associated with the mutation in Korea.
