title: NONICHEMIC CENTRAL RETINAL VEIN OCCLUSION ASSOCIATED WITH HEREDITARY THROMBOPHYLIA.
abstract: Retinal vein occlusion (RVO) is the second most common retinal vein disease with significant visual loss via thrombus or compression of vein wall. Thrombophilia is the predisposition to vascular thrombosis with the existence of genetic defect that leads to blood hypercoagulability. This report describes the case of a 55 year old male patient, with an active life who presented himself at the emergency room with acute visual lose, insidious and progressive visual field constriction, without any known history of neurological or vascular diseases. The examinations revealed unilateral optic nerve head edema, the fluorescein angiography was specific for nonischemic central retinal vein occlusion CRVO complicated with macular edema. Blood examinations has emphasized the presence of the heterozygous mutation A1298C in the methylenetetrahydrofolate reductase gene (MTHFR), the only one presented from the thrombophilia screen panel and a slightly elevated cholesterol level. During the follow-up period, the patient received anti-VEGF treatment (Bevacizumab, 3x 0.1 ml intravitreal injections) with improved visual acuity and amendment of macular edema. The complex etiology calls for interdisciplinary approach to determine better the cause of this ophthalmological disease. Although studies have found a correlation between some thrombophilia mutations and retinal vein occlusion, more studies that contain a larger number of patients are necessary in order to determine the final role of these gene variants.
authors.forename: Andreea Dana
authors.initials: AD
authors.lastname: Fişuş
authors.forename: Doina Suzana
authors.initials: DS
authors.lastname: Pop
authors.forename: Monica Blanka
authors.initials: MB
authors.lastname: Rusu
authors.forename: Florina
authors.initials: F
authors.lastname: Vultur
authors.forename: Karin Ursula
authors.initials: KU
authors.lastname: Horvath
mesh_terms: D020533:Angiogenesis Inhibitors / Q000008:administration & dosage; D000068258:Bevacizumab / Q000008:administration & dosage; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography / Q000379:methods; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D058449:Intravitreal Injections; D007511:Ischemia / Q000175:diagnosis; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009887:Ophthalmoscopy / Q000379:methods; D012170:Retinal Vein Occlusion / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*; D016896:Treatment Outcome; D058609:Visual Field Tests / Q000379:methods
chemical_list: D020533:Angiogenesis Inhibitors; D005819:Genetic Markers; D000068258:Bevacizumab; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)