title: Pathophysiology of the optic neuropathy associated with Friedreich ataxia.
abstract: OBJECTIVE
  To describe the optic neuropathy associated with the genetic defect in Friedreich ataxia and suggest a pathophysiologic mechanism.
  
  
  METHODS
  An experimental model of retinal ganglion cell death in the presence of metal chelation was used to test a hypothetical mechanism for the optic neuropathy of Friedreich ataxia.
  
  
  RESULTS
  Study of cultured rat retinal ganglion cells suggests that abnormal regulation of intracellular iron levels could increase sensitivity to reactive oxygen species and lead to cell death in these metabolically active tissues.
  
  
  CONCLUSIONS
  We hypothesize that decreased expression of frataxin, the mutated gene in Friedreich ataxia, could cause an optic neuropathy by increasing the sensitivity of retinal ganglion cells to oxidative stress.
authors: Department of Ophthalmology and Visual Sciences, University of Wisconsin Medical School, Madison, 53792, USA.
authors: Claron D
authors: CD
authors: Alldredge
authors: Christopher R
authors: CR
authors: Schlieve
authors: Neil R
authors: NR
authors: Miller
authors: Leonard A
authors: LA
authors: Levin
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D000840:Anisoles; D016923:Cell Death; D002478:Cells, Cultured; D002712:Chlorides; D003676:Deferoxamine / Q000494:pharmacology; D005290:Ferric Compounds / Q000494:pharmacology; D005296:Ferrous Compounds / Q000494:pharmacology; D005456:Fluorescent Dyes; D005621:Friedreich Ataxia / Q000378:metabolism / Q000503:physiopathology*; D007502:Iron Chelating Agents / Q000494:pharmacology; D033862:Iron-Binding Proteins / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism; D009901:Optic Nerve Diseases / Q000378:metabolism / Q000503:physiopathology*; D018384:Oxidative Stress / Q000187:drug effects; D011753:Pyrones; D051381:Rats; D020318:Rats, Long-Evans; D017382:Reactive Oxygen Species / Q000494:pharmacology; D012165:Retinal Ganglion Cells / Q000187:drug effects / Q000378:metabolism / Q000473:pathology; D000096923:Frataxin
chemical_list: D000840:Anisoles; D002712:Chlorides; D003676:Deferoxamine; D005290:Ferric Compounds; D005296:Ferrous Compounds; D005456:Fluorescent Dyes; D007502:Iron Chelating Agents; D033862:Iron-Binding Proteins; D011753:Pyrones; D017382:Reactive Oxygen Species; D000096923:Frataxin; C472145:dihydroyangonin; C020748:ferrous sulfate; C024555:ferric chloride