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 G/A 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.
Recurrent central retinal vein occlusion in a young thrombophilic patient with factor V Leiden mutation
BANDELLO , FRANCESCO;
2002-01-01
Abstract
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 G/A 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.