The role of mitochondrial haplogroups in non-arteritic anterior ischemic optic neuropathy

Aims: To investigate a possible association between mitochondrial haplogroups and non-arteritic anterior ischemic optic neuropathy (NAION). Methods: We compared the prevalence of various mitochondrial haplogroups in 24 NAION patients and 552 maternally unrelated ethnic controls. All patients and controls were Saudi Arabs. Results: NAION patients had substantially more potentially pathologic mtDNA nucleotide changes (10/24) than Controls (0/159) and a significantly elevated mean relative mtDNA content (2.62 ± 1.21) than controls (1.33 ± 0.34; p ≤ 0.001). There was no statistically significant difference between patients and controls for any of the mitochondrial haplogroups tested. Conclusions: Mitochondrial haplogroups do not appear to contribute to the pathogenesis of NAION in this cohort; however, mitochondrial abnormalities still seem likely to play a role.