Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation

J Clin Neuroophthalmol. 1992 Mar;12(1):10-4.

Abstract

Five patients with Leber's hereditary optic neuropathy (LHON) and the 11778 mitochondrial mutation spontaneously recovered 20/40 or better visual acuity in at least one eye after months to years of legal blindness. The patients ranged in age from 9 to 45 years, and the duration of visual loss before recovery ranged from several months to 5.9 years. These patients constitute only about 4% of the 136 affected LHON patients we have studied who also had the 11778 mutation in their mitochondrial DNA. Thus, even though the visual prognosis for most patients with LHON and the 11778 mutation is poor, a few individuals do recover near-normal vision in at least one eye even years after the initial visual loss.

Publication types

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

MeSH terms

  • Adolescent
  • Child
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Optic Atrophies, Hereditary / genetics
  • Optic Atrophies, Hereditary / physiopathology*
  • Remission, Spontaneous
  • Vision Disorders / physiopathology
  • Visual Acuity / physiology*
  • Visual Fields

Substances

  • DNA, Mitochondrial