HLA class I genotypes in Leber's hereditary optic neuropathy

J Neurol Sci. 1996 Feb;135(2):173-5. doi: 10.1016/0022-510x(95)00286-b.


There is evidence that mitochondrial DNA (mtDNA) encoded peptides can restrict the immune response in rodents and that these peptides are presented by classical and 'neoclassical' class I major histocompatibility complex (MHC) molecules. We investigated the frequency of HLA-A and two HLA-B genotypes in index cases of 77 families with Leber's hereditary optic neuropathy (LHON), on the basis that there may be an autoimmune component to this disease. There was no association between LHON and any genotype. We conclude that the classical class I MHC loci are not major determinants of the development of blindness in LHON.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Genotype*
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Male
  • Mutation
  • Optic Atrophies, Hereditary / genetics*


  • Histocompatibility Antigens Class I