[Leber's hereditary optic neuropathy (LHON) with mutation at G3460A and MS-like phenotype]

Neurol Neurochir Pol. 2003 May-Jun;37(3):713-20.
[Article in Polish]

Abstract

A sporadic case of a 31 year-old woman with genetically confirmed diagnosis of LHON was presented. Both her optic nerves were affected, with a 5-year interval between the onset in one eye and the loss of vision in the second one. Besides optic atrophy clinical and laboratory signs of multiple sclerosis were found. A review of the literature suggests that the G3460A mutation present in this case rarely coexists with a MS-like clinical phenotype.

Publication types

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

MeSH terms

  • Adult
  • DNA, Mitochondrial / genetics
  • Female
  • Gene Expression / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Multiple Sclerosis / genetics*
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Optic Atrophy, Hereditary, Leber / pathology
  • Phenotype
  • Point Mutation / genetics*

Substances

  • DNA, Mitochondrial