title: Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy.
abstract: Primary mitochondrial DNA (mtDNA) mutation at the nt 11778 site in Leber's hereditary optic neuropathy (LHON) has been reported to be present in patients with ethambutol-induced optic neuropathy. To study further this association between LHON and ethambutol-induced optic neuropathy, we tested ethambutol-induced optic neuropathy patients for the presence of the mtDNA mutations at nucleotides (nt)-11778, nt-14484, nt-3460, nt-15257, nt-9438, nt-9804, nt-13730, and nt-14459 in 24, 15, 8, 6, 5, 5, 5, and 5 patients respectively. However, none of the ethambutol-induced optic neuropathy patients was found to exhibit any pathogenic LHON mtDNA mutation. In conclusion, we found no evidence of any association between ethambutol-induced optic neuropathy and the LHON mutations.
authors.affiliation: Department of Ophthalmology, Seoul Municipal Boramae Hospital, College of Medicine, Seoul National University, 395, Sindaebang-2-dong, Dongjak-ku, Seoul 156-707, Korea. hjm@snu.ac.kr
authors.forename: Jeong-Min
authors.initials: JM
authors.lastname: Hwang
authors.forename: Jiyeon
authors.initials: J
authors.lastname: Kim
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
mesh_terms: D000328:Adult; D000995:Antitubercular Agents / Q000633:toxicity*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D004977:Ethambutol / Q000633:toxicity*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000235:genetics*; D009901:Optic Nerve Diseases / Q000139:chemically induced* / Q000150:complications / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D000995:Antitubercular Agents; D004272:DNA, Mitochondrial; D004977:Ethambutol