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Retinal vein occlusion and factor V Leiden and prothrombin 20210 G:A mutations
1Department of Genetics, Başkent University, School of Medicine, Ankara, Turkey.
Insights
The factor V Leiden mutation is not a significant risk factor for retinal vein occlusion (RVO). This study found no association between the factor V Leiden mutation and RVO in patients compared to controls.
Area of Science:
- Ophthalmology
- Genetics
- Hematology
Background:
- Retinal vein occlusion (RVO) is a significant cause of vision loss.
- Genetic factors may contribute to the risk of RVO.
- The factor V Leiden mutation and prothrombin 20210 G:A mutation are known thrombophilic factors.
Purpose of the Study:
- To investigate the association between factor V Leiden mutation and prothrombin 20210 G:A mutation with retinal vein occlusion.
- To determine if these genetic mutations are risk factors for RVO.
Main Methods:
- A case-control study was conducted with 40 RVO patients and 50 healthy controls.
- Polymerase chain reaction (PCR) was used to detect factor V Leiden and prothrombin 20210 G:A mutations.
- Genotype frequencies were compared between the RVO group and the control group.
Main Results:
- The prevalence of heterozygous factor V Leiden mutation was similar in both RVO patients (5%) and controls (6%) (p=0.84).
- No individuals in either group carried the prothrombin 20210 G:A mutation.
- No statistically significant association was found between RVO and the factor V Leiden mutation.
Conclusions:
- The factor V Leiden mutation is not a significant risk factor for retinal vein occlusion.
- The prothrombin 20210 G:A mutation was not observed in this cohort.
- Further research may be needed to explore other genetic risk factors for RVO.
Purpose:
The aim of this study was to establish whether the factor V Leiden mutation and the prothrombin 20210 G:A mutation were risk factors for retinal vein occlusion.
Methods:
Blood samples were obtained from 40 patients with retinal vein occlusion and from 50 healthy normal volunteers as controls. Polymerase chain reaction assays were done to detect factor V Leiden and prothrombin 20210 G:A mutations, and the two groups were compared.
Results:
Two (5%) of 40 patients with retinal vein occlusion and three (6%) of 50 controls were heterozygous for factor V Leiden (p=0.84). None of the individuals in either group had the prothrombin 20210 G:A mutation.
Conclusions:
There was no significant association between retinal vein occlusion and the factor V Leiden mutation.