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Effects of Common Thrombophilia Factor Mutations in Central Retinal Vein Occlusion
Muhammer Ozgur Cevik1, Sadik Gorkem Cevik21Department of Medical Genetics, Adiyaman University Faculty of Medicine, Adiyaman, Turkey2Department of Ophthalmology, Bursa Yuksek Ihtısas Training and Research Hospital, Bursa, Turkey
INTRODUCTION: Central retinal vein occlusion (CRVO) is a severe eye disease that impairs vision. Although numerous systemic conditions have been reported to be a contributor, its exact pathophysiology has not yet been resolved. The purpose of this study was to study the role of some common thrombophilic polymorphisms in CRVO patients.
METHODS: A total of 33 CRVO patients (25 non-ischemic CRVO and 8 ischemic CRVO) and 30 controls were recruited. Factor V Leiden (G1691A), prothrombin (Factor II G20210A), MTHFR (C677T), MTHFR (A1298C), and PAI-1 5G/4G polymorphisms in venous blood DNA samples were examined, as well as the presence of hypertension, diabetes mellitus, glaucoma, smoking, and history of thrombosis.
RESULTS: It was determined 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 the CRVO and control groups in terms of diabetes mellitus (p=0.058>0.05), hypertension (p=0.3>0.05), smoking (p=0.923>0.05), glaucoma (p=0.06>0.05) or use of anticoagulant drugs (p=0.4>0.05). Analysis of patient history revealed a statistically significant difference regarding a thrombotic event in the medical history of the CRVO group (p=0.001<0.05; n=4) versus the control group. The ischemic CRVO group had a significantly higher incidence of diabetes mellitus (p=0.002<0.05) and hypertension (p=0.031<0.05) than the non-ischemic CRVO group.
DISCUSSION AND CONCLUSION: The MTHFR C677T mutation appears to be a risk factor for CRVO but factor V Leiden (G1691A), prothrombin (Factor II G20210A), MTHFR (A1298C), and PAI-1 5G/4G mutations were not determined to be specifically related to CRVO in this study. The presence of diabetes mellitus and hypertension was significant in the ischemic CRVO group. Further studies with larger sample sizes should be conducted.
Manuscript Language: English
