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.
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.
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.
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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Published online: March 17, 2014
Accepted: December 29, 2013
Received in revised form: October 30, 2013
Received: August 14, 2013
The authors declare that there are no conflicts of interest.
© 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.