ISSN: 2459 - 1777 | E-ISSN 2587-0394
Volume: 3
Issue: 3
Year: 2018
Effects of Common Thrombophilia Factor Mutations in Central Retinal Vein Occlusion [Beyoglu Eye J]
Beyoglu Eye J. Ahead of Print: BEJ-25733 | DOI: 10.14744/bej.2018.25733  

Effects of Common Thrombophilia Factor Mutations in Central Retinal Vein Occlusion

Muhammer Özgür Çevik1, Sadık Görkem Çevik2
1Adiyaman University School of Medicine Department of Medical Genetics, Ataturk Bulvari No: 411, 02040, Adiyaman, Turkey
2Bursa Yuksek Ihtısas Training and Research Hospital, 16140, Bursa, Turkey.

INTRODUCTION: Central retinal vein occlusion is a severe eye disease that impairs vision. Although there are numerous systemic conditions reported to be a contributor, its exact pathophysiology has not been resolved, yet. The purpose of this study is to study the role of common thrombophilic polymorphisms in CRVO patients
METHODS: We recruited 33 CRVO (25-non-ischemic versus eight ischemic CRVO) patients versus 30 controls and investigated Factor V Leiden (G1691A), Prothrombin (Factor II) G202110A, MTHFR (C677T), MTHFR (A1298C) and PAI-1 5G/4G polymorphisms in their venous blood DNA also hypertension, diabetes mellitus, glaucoma, smoking, and history of thrombosis evaluated
RESULTS: We found that MTHFR C677T polymorphisms, either in heterozygous or homozygous form, might be a risk factor for CRVO and systemic thrombosis. No differences were detected between CRVO and control groups in terms of possessing diabetes mellitus (p= 0.058>0.05), hypertension (p=0.3>0.05), smoking (p=0.923>0.05), having glaucoma (p=0.06> 0.05) or usage of anticoagulant drugs (p= 0.4 > 0.05). In patient history, the statistically significant difference was found regarding possessing a thrombotic event in the medical history in CRVO group (p= 0.001 < 0.05, four patients) versus the control group. On the other hand, ischemic CRVO group had significantly higher diabetes mellitus (p= 0.002 < 0.05) and hypertension (p= 0.031 < 0.05) than non-ischemic CRVO group.
DISCUSSION AND CONCLUSION: MTHFR C677T mutation is a risk factor for CRVO but not for Factor V Leiden (G1691A), Prothrombin (Factor II G202110A), MTHFR (A1298C) and PAI-1 5G/4G mutations specifically for CRVO and diabetes mellitus and hypertension is important for ischemic CRVO. Further studies with enlarged sample sizes should be carried out.

Keywords: Central retinal vein occlusion, hereditary thrombophilia, Factor V Leiden (G1691A), Prothrombin (Factor II) G202110A, MTHFR (C677T), MTHFR (A1298C) and PAI-1 5G/4G




Corresponding Author: Muhammer Özgür Çevik, Türkiye


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