RGD Reference Report - Factor V Leiden mutation is associated with ocular involvement in Behcet disease. - Rat Genome Database

Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Factor V Leiden mutation is associated with ocular involvement in Behcet disease.

Authors: Verity, DH  Vaughan, RW  Madanat, W  Kondeatis, E  Zureikat, H  Fayyad, F  Kanawati, CA  Ayesh, I  Stanford, MR  Wallace, GR 
Citation: Verity DH, etal., Am J Ophthalmol. 1999 Sep;128(3):352-6.
RGD ID: 7394767
Pubmed: (View Article at PubMed) PMID:10511031

PURPOSE: Behcet 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 Behcet disease has been reported, but its influence on ocular disease is not known. We therefore investigated the prevalence of this mutation in patients with Behcet 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 Behcet 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 Behcet disease (P = .13). However, among patients with Behcet 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 Behcet 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.


Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
F5  (coagulation factor V)

Genes (Mus musculus)
F5  (coagulation factor V)

Genes (Homo sapiens)
F5  (coagulation factor V)

Additional Information