Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy

Am J Ophthalmol. 1995 Feb;119(2):245-6. doi: 10.1016/s0002-9394(14)73888-7.


Purpose/methods: The most common pathogenic mitochondrial mutation at nucleotide 11778 in Leber's hereditary optic neuropathy is usually detected by the loss of an SfaNI restriction site. To evaluate a false-positive diagnostic error in this molecular genetic assay, we investigated SfaNI polymorphism in 120 patients with bilateral optic atrophy.

Results/conclusions: The ratio of false-positive to true-positive results was 1:36. Mitochondrial DNA polymorphism at nucleotide 11779 reflects a false-positive genetic error.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / analysis
  • DNA, Mitochondrial / genetics
  • Electrophoresis, Agar Gel
  • False Positive Reactions
  • Genetic Carrier Screening
  • Humans
  • Molecular Biology
  • Mutation
  • Optic Atrophies, Hereditary / diagnosis*
  • Optic Atrophies, Hereditary / genetics*
  • Polymorphism, Genetic / genetics
  • Risk Factors


  • DNA, Mitochondrial
  • DNA