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Genetic thrombophilia in patients with retinal vascular occlusion
K Greiner1, D Peetz, A Winkgen
1Department of Ophthalmology, Johannes-Gutenberg-University, Mainz, Germany. k.greiner@abdn.ac.uk
Insights
The factor V R506Q mutation, a cause of genetic thrombophilia, is common in central retinal vein occlusion (CRVO) patients. Its prevalence in CRVO is similar to that found in deep vein thrombosis (DVT) patients.
Area of Science:
- Ophthalmology
- Hematology
- Genetics
Background:
- Retinal vascular occlusion is a significant cause of vision loss.
- Genetic thrombophilia is a potential risk factor for vascular events.
- Understanding the prevalence of thrombophilia in retinal vascular occlusion is crucial for risk assessment.
Purpose of the Study:
- To determine the prevalence of genetic thrombophilia in patients diagnosed with retinal vascular occlusion.
- To identify specific genetic mutations associated with increased risk of retinal vascular occlusion.
Main Methods:
- Investigated 116 patients with various types of retinal vascular occlusion (CRVO, BRVO, CRAO, BRAO).
- Conducted comprehensive coagulation disorder tests, including factor V R506Q mutation and prothrombin gene G20210A.
- Utilized PCR methods for mutation detection and compared findings with deep vein thrombosis (DVT) and coronary heart disease control groups.
Main Results:
- The factor V R506Q mutation was identified in 27% of central retinal vein occlusion (CRVO) patients.
- Prevalence of factor V R506Q mutation in CRVO was comparable to that in deep vein thrombosis (DVT) patients (19%).
- Activated protein C resistance (APCR) was significantly higher in CRVO patients compared to controls.
Conclusions:
- Factor V R506Q mutation is the primary genetic thrombophilia cause in CRVO patients.
- The prevalence of this mutation in CRVO is similar to that observed in DVT.
- Genetic thrombophilia screening may be beneficial for patients with CRVO.
Background:
This study was carried out to determine the prevalence of genetic thrombophilia in patients with retinal vascular occlusion.
Methods:
We investigated 116 consecutive patients with central retinal vein occlusion (CRVO, n = 48), branch retinal vein occlusion (BRVO, n = 33), central retinal artery occlusion (CRAO, n = 21), branch retinal artery occlusion (BRAO, n = 14). All patients underwent comprehensive tests for coagulation disorders including determinations of protein C, protein S, lupus anticoagulants, prothrombin gene mutation (G20210A), resistance to activated protein C (APCR), and were screened for vascular disease risk factors. APC resistance was confirmed by a PCR method to detect the factor V R506Q mutation. A PCR method was also used to detect the G20210A mutation. For comparative purposes, we screened 209 consecutive patients with deep vein thrombosis (DVT) and 581 patients with coronary heart disease (control group) for APC resistance.
Results:
13 (27%) of 48 patients with CRVO had the factor V R506Q mutation. The factor V R506Q mutation was detected in six (18%) of 33 patients with BRVO, but in only one patient with CRAO and in two patients with BRAO. Other thrombophilic defects were not detected. The APCR prevalence within the CRVO group was significantly increased when compared to the control group (8%). There was no significant difference in the factor V R506Q mutation prevalence between the CRVO group and the DVT group (19%).
Conclusion:
The factor V R506Q mutation is the most common cause of genetic thrombophilia in patients with CRVO and has a similar prevalence as in DVT patients.