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Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy

From the Neuro-ophthalmology Division (Dr. Bosley), King Khaled Eye Specialist Hospital; and the Departments of Neuroscience (Dr. Bosley) and Genetics (Drs. Abu-Amero and Ozand), King Faisal Specialist Hospital, Riyadh, Saudi Arabia.

Address correspondence and reprint requests to Dr. Thomas M. Bosley, King Khaled Eye Specialist Hospital, PO Box 7191, Riyadh 11462, Saudi Arabia; e-mail: tmbosley{at}bosleynet.net

The authors sequenced the entire mitochondrial DNA coding region in a group of 19 patients with non-arteritic anterior ischemic optic neuropathy (NAION) and in 100 controls. Synonymous and nonsynonymous nucleotide changes were more common in NAION patients (p < 0.001). Twelve of these (11 novel) were potentially pathologic, nine of which altered moderately or highly conserved amino acids in the functional domain of the affected protein. Mitochondrial malfunction may be a risk factor for NAION.

Received March 16, 2004. Accepted in final form May 21, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the October 12 issue to find the title link for this article.

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