Recurrent central retinal vein occlusion in a young thrombophilic patient with factor V Leiden mutation

PURPOSE: To investigate the cause of recurrent central retinal vein occlusion in a 26-year-old white woman. METHODS: Case report. Complete blood analyses were done, including HLA tissue typing, immunoserologic and coagulation tests, with cardiovascular and capillaroscopy investigations. Factor V:R506Q and prothrombin 20210 GIA mutations were checked by polymerase chain reaction and restriction enzyme analysis. RESULTS: DNA analysis showed the patient to be heterozygous for factor V:R506Q mutation. During a follow-up of 18-months, after starting anticoagulant therapy, the patient had not suffered from any other ocular or systemic occlusive vascular accident. CONCLUSIONS: The R506Q factor V gene mutation may be associated with recurrent central retinal vein occlusions. Genetic investigation should be promptly recommended in thrombotic patients to establish a specific preventive treatment.