title: Prothrombin G20210A and methylenetetrahydrofolate reductase C677T polymorphisms in peripheral capillary nonperfusion: a case report.
abstract: The G20210A mutation in the prothrombin gene is an established risk factor for venous thrombosis. However, there is some controversy as to the role played by this mutation in arterial thrombotic disease. The association of peripheral capillary nonperfusion with prothrombin G20210A mutation has never been reported before. We present the case of 34-year-old man who presented with peripheral capillary nonperfusion. The fundus examination of his right eye revealed an epiretinal membrane, peripheral (mainly temporally) retinal haemorrhages, exudates and microaneurismal alterations of the vascular bed. Fluorescein angiography of his right eye demonstrated an extended area of capillary nonperfusion distal to the microaneurismal lesions. Evaluation revealed mutations of the G20210A prothrombin and MTHFR genes. Screening for hereditary thrombophilia should be considered, regardless of patient age, in patients with peripheral retinal ischemia. The prothrombin G20210A mutation, a genetic risk factor, may be associated with peripheral capillary nonperfusion.
authors.affiliation: aDepartment of Ophthalmology bLaboratory of Molecular Biology, Department of Hematology, Military Hospital of Tunisia, Tunis, Tunisia.
authors.forename: Chaima
authors.initials: C
authors.lastname: Wathek
authors.forename: Meriem
authors.initials: M
authors.lastname: Mrad
authors.forename: Nadia Ben
authors.initials: NB
authors.lastname: Abdessalem
authors.forename: Afef
authors.initials: A
authors.lastname: Maalej
authors.forename: Nasreddine
authors.initials: N
authors.lastname: Gritli
authors.forename: Salem
authors.initials: S
authors.lastname: Gabsi
authors.forename: Riadh
authors.initials: R
authors.lastname: Rannen
authors.forename: Najiba
authors.initials: N
authors.lastname: Fekih-Mrissa
mesh_terms: D000328:Adult; D006490:Hemostatics / Q000378:metabolism*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000378:metabolism*; D012307:Risk Factors
chemical_list: D006490:Hemostatics; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)