BACKGROUND: The potential impact of coagulation abnormalities on non-arteritic ischaemic optic neuropathy (NAION), individually and in combination with cardiovascular risk factors, remains unclear. PATIENTS AND METHODS: In a prospective case-control study a cohort of 26 NAION patients < 60 years at the time of the NAION or a previous thromboembolic event and 50 subjects matched for age and sex were prospectively screened for thrombophilic risk factors. RESULTS: Overall, thrombophilic defects were found to be present in 12 of 26 patients (46.2 %) and in 9 of 50 (18 %) controls (p = 0.01). The most frequent coagulation disorders were high levels of factor VIII (p = 0.04) and lipoprotein (a) (p = 0.03). Moreover, we identified two patients with homozygous resistance to activated protein C, which is the first description of this coagulation disorder associated with NAION. Patients without cardiovascular risk factors had a statistically significant higher frequency of coagulation disorders than patients with these risk factors (p = 0.038). CONCLUSIONS: Our results indicate that thrombophilic disorders are associated with the development of non-arteriitic ischaemic optic neuropathy in patients < 60 years of age at the time of a first thromboembolic event. Selective screening of young patients and patients without cardiovascular risk factors may be helpful in identifying NAION patients with thrombophilic defects.
BACKGROUND: The potential impact of coagulation abnormalities on non-arteritic ischaemic optic neuropathy (NAION), individually and in combination with cardiovascular risk factors, remains unclear. PATIENTS AND METHODS: In a prospective case-control study a cohort of 26 NAION patients < 60 years at the time of the NAION or a previous thromboembolic event and 50 subjects matched for age and sex were prospectively screened for thrombophilic risk factors. RESULTS: Overall, thrombophilic defects were found to be present in 12 of 26 patients (46.2 %) and in 9 of 50 (18 %) controls (p = 0.01). The most frequent coagulation disorders were high levels of factor VIII (p = 0.04) and lipoprotein (a) (p = 0.03). Moreover, we identified two patients with homozygous resistance to activated protein C, which is the first description of this coagulation disorder associated with NAION. Patients without cardiovascular risk factors had a statistically significant higher frequency of coagulation disorders than patients with these risk factors (p = 0.038). CONCLUSIONS: Our results indicate that thrombophilic disorders are associated with the development of non-arteriitic ischaemic optic neuropathy in patients < 60 years of age at the time of a first thromboembolic event. Selective screening of young patients and patients without cardiovascular risk factors may be helpful in identifying NAION patients with thrombophilic defects.