Pathophysiology of the optic neuropathy associated with Friedreich ataxia.

Leonard Levin // Publications // Nov 01 2003

PubMed ID: 14609915

Author(s): Alldredge CD, Schlieve CR, Miller NR, Levin LA. Pathophysiology of the optic neuropathy associated with Friedreich ataxia. Arch Ophthalmol. 2003 Nov;121(11):1582-5. PMID 14609915

Journal: Archives Of Ophthalmology (Chicago, Ill. : 1960), Volume 121, Issue 11, Nov 2003

OBJECTIVES 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.

CONCLUSION 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.