PMID- 26978887 OWN - NLM STAT- MEDLINE DCOM- 20160415 LR - 20240327 IS - 2457-4325 (Print) IS - 2501-2533 (Electronic) IS - 2457-4325 (Linking) VI - 59 IP - 3 DP - 2015 Jul-Sep TI - NONICHEMIC CENTRAL RETINAL VEIN OCCLUSION ASSOCIATED WITH HEREDITARY THROMBOPHYLIA. PG - 172-6 AB - 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. FAU - Fisus, Andreea Dana AU - Fisus AD FAU - Pop, Doina Suzana AU - Pop DS FAU - Rusu, Monica Blanka AU - Rusu MB FAU - Vultur, Florina AU - Vultur F FAU - Horvath, Karin Ursula AU - Horvath KU LA - eng PT - Case Reports PT - Journal Article PL - Romania TA - Rom J Ophthalmol JT - Romanian journal of ophthalmology JID - 101677459 RN - 0 (Angiogenesis Inhibitors) RN - 0 (Genetic Markers) RN - 2S9ZZM9Q9V (Bevacizumab) RN - EC 1.5.1.20 (MTHFR protein, human) RN - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)) SB - IM MH - Angiogenesis Inhibitors/administration & dosage MH - Bevacizumab/administration & dosage MH - Diagnosis, Differential MH - Fluorescein Angiography/methods MH - Genetic Markers/genetics MH - Genotype MH - Heterozygote MH - Humans MH - Intravitreal Injections MH - Ischemia/diagnosis MH - Male MH - Methylenetetrahydrofolate Reductase (NADPH2)/*genetics MH - Middle Aged MH - *Mutation MH - Ophthalmoscopy/methods MH - Retinal Vein Occlusion/*diagnosis/drug therapy/*genetics MH - Thrombophilia/complications/*genetics MH - Treatment Outcome MH - Visual Field Tests/methods PMC - PMC5712964 EDAT- 2016/03/17 06:00 MHDA- 2016/04/16 06:00 PMCR- 2015/08/01 CRDT- 2016/03/17 06:00 PHST- 2016/03/17 06:00 [entrez] PHST- 2016/03/17 06:00 [pubmed] PHST- 2016/04/16 06:00 [medline] PHST- 2015/08/01 00:00 [pmc-release] AID - RomJOphthalmol-59-172 [pii] PST - ppublish SO - Rom J Ophthalmol. 2015 Jul-Sep;59(3):172-6.