Retinal artery occlusion in a patient with factor V Leiden and prothrombin G20210A mutations

Retinal artery occlusion is rare in young adults, and may be associated with hereditary thrombophilia. We present a 19-year-old male who was evaluated for central retinal artery occlusion and found to be homozygous for the factor V Leiden mutation and heterozygous for the prothrombin G20210A mutation. Anterior chamber paracenthesis resulted in dramatic improvement, but recurring loss of vision necessitated repeated paracenthesis and the addition of aspirin to standard anticoagulation treatment. The literature concerning hereditary thrombophilia and retinal artery occlusion is reviewed, and the synergistic effect of multiple risk factors is emphasized. Screening for hereditary thrombophilia should be considered for young people presenting with unexplained retinal artery occlusion.