Nonarteritic anterior ischemic optic neuropathy: associations with homozygosity for the C677T methylenetetrahydrofolate reductase mutation

The factor V Leiden mutation, high factor VIII, and high plasminogen activator inhibitor activity: etiologies for sporadic miscarriage

“…Polymerase chain reaction assays for 4 gene mutations (G1691A factor V Leiden, G20210A prothrombin, C677T/A1298C MTHFR, 4G/5G plasminogen activator inhibitor 1) were performed as previously described [3,11,[22][23][24][25].…”

Selective thrombophilia screening of patients with nonarteritic anterior ischemic optic neuropathy

“…By contrast, the relation between thrombophilic disorders and NAION remains unclear. Over the past years, anecdotal reports have suggested an association of NAION and coagulation defects [1,5,8,24,25,33]. While a possible causative role has been proposed, other researchers have failed to prove an association.…”

Familial non-arteritic anterior ischemic optic neuropathy

“…Glueck et al [9] evaluated in 12 non-familial classical NA-AION patients (eight with unilateral and four bilateral NA-AION) homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation. They claimed that patients with NA-AION were more likely than controls to demonstrate this homozygosity.…”