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Hyperhomocysteinemia and the MTHFR C677T mutation in central retinal vein occlusion
J Larsson1, B Hultberg, A Hillarp
1Department of Ophthalmology, Lund University Hospital, Sweden. Jorgen.Larsson@oft.lu.se
Insights
Hyperhomocysteinemia and the MTHFR C677T mutation are not significant risk factors for central retinal vein occlusion. This study found no increased prevalence of these conditions in patients with this eye condition.
Area of Science:
- Ophthalmology
- Genetics
- Vascular Medicine
Background:
- Hyperhomocysteinemia is a known risk factor for thrombosis.
- The C677T mutation in methylene-tetrahydrofolate reductase (MTHFR) is associated with elevated plasma homocysteine levels.
- Central retinal vein occlusion (CRVO) is a serious vascular event affecting the eye.
Purpose of the Study:
- To investigate the potential association between hyperhomocysteinemia and the MTHFR C677T mutation in patients with CRVO.
- To determine if these factors are overrepresented in individuals experiencing CRVO.
Main Methods:
- A cohort of 116 patients with a history of central retinal vein occlusion was studied.
- Participants were assessed for the presence of hyperhomocysteinemia.
- The frequency of the MTHFR C677T mutation was analyzed in the patient group.
Main Results:
- No significant increase in plasma homocysteine levels was observed in CRVO patients compared to control groups.
- The frequency of the MTHFR C677T mutation was not significantly higher in patients with CRVO.
- Analysis of younger patients (under 50 years) also revealed no detectable difference in these factors.
Conclusions:
- Neither hyperhomocysteinemia nor the MTHFR C677T mutation appears to be a significant risk factor in the etiology of central retinal vein occlusion.
- These findings suggest that other etiological factors may play a more prominent role in the development of CRVO.
Background:
Hyperhomocysteinemia is a factor that predisposes to thrombosis, and the C677T mutation in methylene-tetrahydrofolate reductase (MTHFR) is known to give increased plasma homocysteine. We wanted to investigate if these factors were overrepresented in a group of patients with central retinal vein occlusion.
Methods:
116 patients with a history of central retinal vein occlusion were examined for the presence of hyperhomocysteinemia and the MTHFR C677T mutation.
Results:
Compared to the control groups, there was no significant increase, neither in plasma homocysteine nor in the frequency of the MTHFR C677T mutation in the patients. Even when we looked selectively at the young patients, age less than 50 years, no difference could be detected.
Conclusion:
It seems that neither hyperhomocysteinemia nor the MTHFR C677T mutation is an important risk factor for the aetiology of central retinal vein occlusion.