J Korean Ophthalmol Soc.  1996 Jul;37(7):1241-1246.

Optic Neuropathy Associated with Mitochondrial tRNA(Leu(UUR)) A->G(3243) Mutation

Affiliations
  • 1Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea.
  • 2Department of Ophthalmology, Seoul City Boramae Hospital, Seoul, Korea.
  • 3Department of Pediatrics, Seoul City Boramae Hospital, Seoul, Korea.
  • 4Department of Neurology, Seoul City Boramae Hospital, Seoul, Korea.

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.

Keyword

Mitochondrial tRNA(Leu(UUR)) A->G(3243) mutation; Optic neuropathy

MeSH Terms

Acidosis, Lactic
Deafness
Diabetes Mellitus
Humans
Korea
Ophthalmoplegia, Chronic Progressive External
Optic Nerve Diseases*
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