title: Posterior ocular involvement in Behçet's disease and thrombophilic mutations.
abstract: It is not well established whether there is an association among common inherited gene defects, Factor V (FV) Leiden, the prothrombin (PT) G20210A mutation, C677T methylene tetrahydrofolate reductase (MTHFR) and ocular Behçet's disease (BD). We aimed to evaluate the association of these mutations with posterior ocular involvement in 89 BD patients from eastern Spain (48 men and 41 women) of whom 23 had posterior ocular involvement and 66 did not. None of the 23 BD patients with posterior ocular involvement was a carrier of either FV Leiden or the PTG20210A mutation. Only 1 patient was a carrier of the 677TT MTHFR mutation, whereas 4 patients carried FV Leiden, 3 the PTG20210A mutation and 10 the 677TT MTHFR mutation in the group without posterior ocular involvement (p = 0.227, p = 0.556, p = 0.144), respectively. In our geographical area, the commonest thrombophilic mutations do not seem to be related with posterior ocular involvement in BD patients.
authors.affiliation: Hematology and Hemostasis Unit, Service of Clinical Pathology, La Fe University Hospital, Valencia, Spain.
authors.forename: Amparo
authors.initials: A
authors.lastname: Vayá
authors.forename: José Miguel
authors.initials: JM
authors.lastname: De la Fuente
authors.forename: Marta
authors.initials: M
authors.lastname: Suescun
authors.forename: Enrique
authors.initials: E
authors.lastname: España
authors.forename: José M
authors.initials: JM
authors.lastname: Ricart
mesh_terms: D000328:Adult; D001528:Behcet Syndrome / Q000150:complications / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D019851:Thrombophilia / Q000150:complications / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)