Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA

Int J Neurosci. 1994 Aug;77(3-4):261-6. doi: 10.3109/00207459408986036.


Almost complete spontaneous recovery in visual function was observed in a male patient with Leber's hereditary optic neuropathy (LHON), in spite of the presence of several LHON-associated "major" and "minor" mutations of mitochondrial DNA. Our findings confirm that visual loss in LHON may be reversible, and challenge the hypothesis of a "synergistic" effect of multiple mtDNA mutations in the phenotypic expression of the disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • DNA, Mitochondrial*
  • Humans
  • Male
  • Optic Atrophies, Hereditary / diagnosis*
  • Optic Atrophies, Hereditary / physiopathology
  • Phenotype
  • Point Mutation*
  • Vision, Ocular / physiology*
  • Visual Acuity


  • DNA, Mitochondrial