[A case of Leber optic neuropathy with a new point mutation in the cytochrome b gene]

Ophthalmologe. 2000 Jan;97(1):22-6. doi: 10.1007/s003470050006.
[Article in German]


Background: Leber's hereditary optic neuropathy (LHON) is associated with mutations in the mitochondrial DNA (mtDNA). We report the clinical and molecular genetic findings of a patient who does not carry any of the common LHON mutations.

Methods: Clinical data were collected for the affected patient and two unaffected maternal family members. Complete sequence analysis of the mtDNA protein coding region was performed in the affected patient.

Results: Clinical examination of the affected patient showed typical features of LHON. A nucleotide exchange was detected at np14894 replacing an evolutionarily conserved phenylalanine by a leucine in the cytochrome b gene. The mutation was also present in two unaffected maternal family members, but absent in 60 other LHON lineages and 175 unrelated controls.

Conclusions: Cytochrome b plays an important role in the electron transport chain of mitochondrial oxidative phosphorylation, and some mutations in the gene encoding cytochrome b have been associated with LHON. Our results may imply that the novel mutation at np14894 is responsible for LHON in this family.

Publication types

  • Case Reports
  • Comparative Study
  • English Abstract

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Cytochrome b Group / genetics*
  • DNA, Mitochondrial / genetics
  • Female
  • Fluorescein Angiography
  • Humans
  • Male
  • Molecular Sequence Data
  • Optic Atrophies, Hereditary / diagnosis
  • Optic Atrophies, Hereditary / genetics*
  • Pedigree
  • Point Mutation*
  • Visual Fields


  • Cytochrome b Group
  • DNA, Mitochondrial