Background: Retinal vein occlusion (RVO) is the second most common cause of vision loss because of retinal vascular disease. There are 2 types of RVO: branch retinal vein occlusion (BRVO) and central retinal vein occlusion (CRVO). The pathogenesis of RVO is multifactorial. The role of factor V Leiden (FVL) and prothrombin mutations was examined in patients with CRVO and BRVO.
Methods: FVL and prothrombin were investigated by extracting DNA of 88 patients with RVO. Sixteen of the patients were diagnosed with CRVO, 4 with hemispheric retinal vein occlusion, and 68 with BRVO. The genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism.
Results: Significant differences were found in the frequencies of the genotypes for both the FVL (G1691A) (P<10(-3), odds ratio [OR]=17.4, confidence interval [CI]=6.20-59) and prothrombin (G20210A) (P=.007, OR=5.11, CI=1.30-29) polymorphisms between RVO patients and healthy controls. Additionally, the frequency of the GA genotype for the G1691A polymorphism was significantly higher among the patients in a subset of BRVO compared with controls (P<10(-3), OR=21.4, CI=7.34-74.2). However, no statistically significant differences were found in the frequencies of the prothrombin G20210A polymorphism between the BRVO group and healthy controls (P=.09, OR=3.13, CI=64-19.9). The frequency of both G1691A and G20210A genotypes among the patients of a CRVO subgroup was significantly higher compared with controls (P<10(-3), OR=11.4, CI=2.94-44.2; P=.007, OR=10.8, CI=2.15-54.1, respectively), suggesting an association between these polymorphisms and CRVO.
Conclusions: Large study would be required to understand completely the contribution of these markers in the risk of all types of RVO.
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