title: Recurrent central retinal vein occlusion in a young thrombophilic patient with factor V Leiden mutation.
abstract: 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.
authors.affiliation: Department of Ophthalmology, University of Ferrara, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Incorvaia
authors.forename: F
authors.initials: F
authors.lastname: Bandello
authors.forename: F
authors.initials: F
authors.lastname: Parmeggiani
authors.forename: S
authors.initials: S
authors.lastname: D'Angelo
authors.forename: C
authors.initials: C
authors.lastname: Costagliola
authors.forename: A
authors.initials: A
authors.lastname: Sebastiani
mesh_terms: 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
chemical_list: D000925:Anticoagulants; C095381:factor V Leiden; D014859:Warfarin; D005165:Factor V