Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations

J Med Genet. 1998 Mar;35(3):258-9. doi: 10.1136/jmg.35.3.258.


A patient with Fuch's corneal dystrophy, sensorineural hearing loss, diabetes, cardiac conduction defects, ataxia, and hyperreflexia is described. Analysis of lymphocyte mitochondrial DNA showed missense mutations usually associated with Leber's hereditary optic neuropathy. The occurrence of Fuch's dystrophy in this patient and the biology of corneal endothelial cells suggest that mitochondrial defects could be the cause of Fuch's endothelial dystrophy.

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Female
  • Fuchs' Endothelial Dystrophy / genetics*
  • Humans
  • Lymphocytes
  • Male
  • Middle Aged
  • Mutation*
  • Optic Atrophies, Hereditary / genetics
  • Pedigree


  • DNA, Mitochondrial