Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations

PURPOSE: To analyze the potential cause of retinal arterial occlusion in a 9-year-old child, METHODS: Case report, Antithrombin III, protein C, free protein S, activated protein C resistance, and antiphospholipid antibodies in plasma were determined, Determination of factor V R506Q (leiden mutation), thermolabile methylene tetrahydrofolate reductase by polymerase chain reaction, and restriction enzyme analysis were performed, RESULTS: The patient was found to be heterozygous for factor V R506Q (Leiden mutation) and homozygous for thermolabile methylene tetrahydrofolate reductase, CONCLUSION: Coexistence of two mild hereditary thrombophilic states may result in severe thrombotic manifestations in young people.