Factor V Leiden and prothrombin gene G20210A mutations in ocular Behçet disease.

Abstract

To investigate genetic prothrombotic factors (factor V Leiden and prothrombin gene G20210A mutations) and their relation with retinal vascular occlusions in ocular Behçet disease. Thirty Behçet patients were prospectively recruited into the study. Their mean age was 34.2 +/- 8.3 years. All patients underwent complete ophthalmic examination and fluorescein angiography. Of the 30 patients, 15 (16 eyes) had retinal vascular occlusion. Patients were tested for the presence of factor V Leiden and prothrombin gene G20210A mutations by polymerase chain reaction. The results were compared with the frequencies of factor V Leiden in 285 and prothrombin gene G20210A mutation in 182 healthy members of the Turkish population. The prevalence of factor V Leiden mutation was significantly higher in ocular Behçet patients (12/30, 40%), compared with healthy control subjects (28/285, 9.8%) (p < 0.001). Of the 12 Behçet patients with factor V Leiden mutation, eight had retinal vascular occlusion. The prevalence of factor V Leiden was 53.3% (8/15) of the 15 patients with retinal vascular occlusion and 26.7% (4/15) of the remaining 15 patients without vascular occlusion. Prothrombin gene mutation was detected in none of Behçet patients compared with 2.7% (5/182) of the control group. These data suggest that factor V Leiden may be an additional risk factor in ocular Behçet disease, whereas factor II mutations do not seem to be relevant.