title: Factor V Leiden mutation is associated with ocular involvement in Behçet disease.
abstract: OBJECTIVE
  Behçet disease is a systemic disease of young adults characterized by venous occlusion in both the deep venous and retinal circulations. In severe ocular disease, blindness may occur despite immunosuppressive treatment. The most common inherited risk factor for the development of idiopathic venous thrombosis is the presence of the Factor V (FV Leiden) mutation, which confers resistance to activated protein C. The association of FV Leiden with Behçet disease has been reported, but its influence on ocular disease is not known. We therefore investigated the prevalence of this mutation in patients with Behçet disease to determine its contribution to the presence and severity of ocular disease.
  
  
  METHODS
  One hundred and six Middle Eastern patients satisfying international criteria, and 120 healthy control subjects without a history of venous thrombosis were included in the study, and patients underwent standard examination by two ophthalmologists with an interest in Behçet disease. Genomic DNA was extracted from peripheral blood leukocytes and screened for the FV Leiden mutation with the polymerase chain reaction method with sequence-specific primers (PCR-SSP).
  
  
  RESULTS
  FV Leiden was detected in 19% (23/120) of the control population compared with 27% (29/106) of all patients with Behçet disease (P = .13). However, among patients with Behçet disease who had ocular disease (75/106), the prevalence of FV Leiden was significantly higher (32%) than it was in control subjects (P = .04). Furthermore, ocular patients with Behçet disease in whom retinal occlusive disease was observed (25/75) had the highest expression of FV Leiden (44%).
  
  
  CONCLUSIONS
  These data suggest that FV Leiden may be an additional risk factor for the development of ocular disease and, in particular, retinal vaso-occlusion, and it may contribute to the poor visual outcome in these patients.
authors.affiliation: United Medical and Dental Schools of St Thomas' and Guy's Hospitals, London, England. dverity@rayne.umds.ac.uk
authors.forename: D H
authors.initials: DH
authors.lastname: Verity
authors.forename: R W
authors.initials: RW
authors.lastname: Vaughan
authors.forename: W
authors.initials: W
authors.lastname: Madanat
authors.forename: E
authors.initials: E
authors.lastname: Kondeatis
authors.forename: H
authors.initials: H
authors.lastname: Zureikat
authors.forename: F
authors.initials: F
authors.lastname: Fayyad
authors.forename: C A
authors.initials: CA
authors.lastname: Kanawati
authors.forename: I
authors.initials: I
authors.lastname: Ayesh
authors.forename: M R
authors.initials: MR
authors.lastname: Stanford
authors.forename: G R
authors.initials: GR
authors.lastname: Wallace
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001528:Behcet Syndrome / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D005128:Eye Diseases / Q000453:epidemiology / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007597:Jordan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence
chemical_list: D017931:DNA Primers; C095381:factor V Leiden; D005165:Factor V; D004247:DNA