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

Purpose: To investigate genetic prothrombotic factors (factor V Leiden and prothrombin gene G20210A mutations) and their relation with retinal vascular occlusions in ocular Behçet disease.

Methods: 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.

Results: 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.

Conclusion: 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.