Inherited thrombophilia and the eye

Abstract

Inherited thrombophilic disorders are a well-recognized risk factor for systemic thromboembolism. These disorders include deficiencies of anticoagulant proteins such as protein C, protein S, and antithrombin III, abnormalities of factor V and prothrombin resulting from genetic mutations, and hyperhomocysteinemia. Except for hyperhomocysteinemia, which has been associated with both venous and arterial thrombosis, the other heritable disorders primarily cause venous thromboembolism. We have reviewed the association between heritable thrombophilia and the development of thrombosis in the eye. The available literature consists of case-control studies and case reports. Preliminary data suggest a relationship between thrombotic disorders of the eye and the inherited hypercoagulable states. Some reports show a risk of thrombosis with the presence of factor V Leiden and hyperhomocysteinemia but these associations frequently disappear upon multivariate analysis. It is possible that inherited thrombophilia plays a supportive role to well-established risk factors such as hypertension and diabetes. Larger, well-designed studies will be necessary to clearly define the role of inherited thrombophilia in the development of thrombotic disorders of the eye.