HLA class II genotypes in Leber's hereditary optic neuropathy

J Neurol Sci. 1994 Nov;126(2):193-6. doi: 10.1016/0022-510x(94)90272-0.


There is an association between Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis-like illness, raising the possibility of autoimmune pathogenetic mechanisms in LHON. We therefore investigated the frequency of HLA-DR genotypes in members of 79 families with LHON, defined by the presence of a pathogenic mitochondrial DNA mutation. There was no association between LHON and any HLA-DR genotype. Furthermore, affected relative pairs did not share HLA genotypes more than discordant pairs. We conclude that the HLA-DR locus is not a major genetic determinant for the development of blindness in LHON.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA, Mitochondrial / genetics
  • Female
  • Genotype
  • Histocompatibility Antigens Class II / genetics*
  • Humans
  • Male
  • Multiple Sclerosis / complications
  • Mutation
  • Optic Atrophies, Hereditary / complications
  • Optic Atrophies, Hereditary / genetics*
  • Optic Atrophies, Hereditary / immunology*


  • DNA, Mitochondrial
  • Histocompatibility Antigens Class II