Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.
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.
Albin
R L
RL
Department of Neurology, University of Michigan Medical Center, Ann Arbor, USA.
D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics*; D006801:Humans; D008214:Lymphocytes; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000235:genetics; D010375:Pedigree
D004272:DNA, Mitochondrial