Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy

J Neurol. 2003 Jan;250(1):87-9. doi: 10.1007/s00415-003-0960-0.

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.

MeSH terms

  • Adult
  • Antitubercular Agents / toxicity*
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Ethambutol / toxicity*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Optic Atrophy, Hereditary, Leber / complications
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Optic Nerve Diseases / chemically induced*
  • Optic Nerve Diseases / complications
  • Optic Nerve Diseases / genetics*
  • Polymerase Chain Reaction

Substances

  • Antitubercular Agents
  • DNA, Mitochondrial
  • Ethambutol