Ocular artery thrombosis as an initial presentation of a prothrombin G20210A mutation

Abstract

The G20210A mutation in the prothrombin gene is an established risk factor for venous thrombosis. There is controversy as to the role played by this mutation in arterial thrombotic disease. We present the case of a 56-year-old man who presented with a central retinal artery occlusion of the left eye. Evaluation revealed hypercholesterolemia, smoking, and heterozygosity for the prothrombin G20210A mutation. The literature concerning hereditary thrombophilia and retinal artery occlusion was reviewed. The synergistic effect of multiple risk factors is emphasized. Screening for hereditary thrombophilia should be considered, regardless of patient age. The prothrombin G20210A mutation may be associated with central retinal artery occlusion.