HEMOSTASIS GENE POLYMORPHISM IN RETINAL VASCULAR OCCLUSION: A SYSTEMATIC REVIEW

Abstract

Purpose: Retinal vascular occlusion (RVO), a common reason for vision loss, is divided into central and branch RVO. Although age, hypertension, and diabetes are established risk factors, genetic variations in hemostasis-related genes like Prothrombin G20210A, Factor V Leiden, and MTHFR may also contribute. Yet, there is conflicting evidence connecting these genetic variations to RVO. The objective of this research is to conduct a thorough evaluation and examination of the connection between variations in hemostasis genes, such as MTHFR C677T and A1298C, and retinal vessel occlusion.

Methods: A comprehensive review and meta-analysis were performed adhering to PRISMA standards. Databases (PubMed, Google Scholar, Ovid, Wiley) were queried for English-language studies (2018-2024) using keywords: "retinal vessel occlusion," "hemostasis genes," "thrombophilia," "Prothrombin G20210A," "Factor V Leiden," and "MTHFR polymorphism." This study included ten studies (n=2281 patients) that were published from 2019 to 2024. The level of heterogeneity for each polymorphism was determined utilizing a random-effects model, while quality of assessment was done using Cochrane risk of bias tool.

Results: There was no notable link observed between the MTHFR C677T polymorphism and RVO (P=0.90, OR=0.77, 95% CI=0.55-1.18, I2=0%). Equivalent findings were recorded for A1298C (P=0.84, OR=0.93, 95% CI=0.48-1.81, I2=27%) and MMP2-1306C/T (P=0.10, OR=0.70, 95% CI=0.41-1.20, I2=68%). Though there is some evidence linking polymorphisms in hemostasis genes like MTHFR C677T, A1298C, and others to hypercoagulable conditions, their connection to retinal vessel occlusion is still uncertain.

Conclusion: Some individual studies suggested a role for MTHFR polymorphisms in RVO, our meta-analysis found no significant association between these genetic variants and RVO risk. This underscores the need for further research to clarify the interplay of genetic and environmental factors in RVO pathogenesis.