Role of Thrombophilic Gene Polymorphisms in Branch Retinal Vein Occlusion

Objective Branch retinal vein occlusion (BRVO) is a common cause of severe visual loss. Numerous risk factors, including arterial hypertension, diabetes mellitus, and arteriosclerosis, have been identified. Gene polymorphisms affecting hemostasis may also play a role in the pathogenesis of BRVO. The present study was therefore done to determine the prevalence of genetic polymorphisms in factors implicated in hypercoagulability among patients with BRVO. Design Retrospective case–control study. Participants The study cohort consisted of 294 patients with BRVO and 294 control subjects, matched for age and gender. Methods Determination of genotypes was done by allele-specific digestion of polymerase chain reaction products, or by 5′ exonuclease assay (TaqMan). Main Outcome Parameters Genotypes of factor V R506Q (factor V Leiden), prothrombin 20210G>A, fibrinogen β -455G> A, factor XII (FXII) 46C>T, and ITGA2 807C>T (platelet glycoprotein Ia [GPIa] 807C>T) and ITGB3 L59P (platelet GPIIIa Pl A1 /Pl A2 ) polymorphisms. Results Genotype distributions of the investigated gene polymorphisms did not differ significantly between patients and control subjects. In contrast, significantly increased prevalences of arterial hypertension and hypercholesterolemia were found among patients with BRVO. In a logistic regression analysis, the presence of arterial hypertension was associated with an odds ratio (OR) of 2.32 (95% confidence interval [CI], 1.62–3.32), whereas hypercholesterolemia yielded an OR of 2.54 (95% CI, 1.74–3.70) for BRVO. Conclusion Our data indicate that the prevalences of the investigated gene polymorphisms do not differ significantly in patients with BRVO and control subjects. This suggests that these polymorphisms are not major risk factors for BRVO.