Recurrent central retinal vein occlusion in a young thrombophilic patient with factor V Leiden mutation.
OBJECTIVE
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.
Incorvaia
C
C
Department of Ophthalmology, University of Ferrara, Italy.
Bandello
F
F
Parmeggiani
F
F
D'Angelo
S
S
Costagliola
C
C
Sebastiani
A
A
D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006650:Histocompatibility Testing; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012008:Recurrence; D012170:Retinal Vein Occlusion / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D019851:Thrombophilia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D014792:Visual Acuity; D014859:Warfarin / Q000627:therapeutic use
D000925:Anticoagulants; C095381:factor V Leiden; D014859:Warfarin; D005165:Factor V