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NONICHEMIC CENTRAL RETINAL VEIN OCCLUSION ASSOCIATED WITH HEREDITARY THROMBOPHYLIA
Romanian Journal of Ophthalmology
|March 17, 2016
Summary
A 55-year-old male experienced sudden vision loss due to central retinal vein occlusion (CRVO). Genetic testing revealed an MTHFR gene mutation, suggesting a link between thrombophilia and RVO.
Area of Science:
- Ophthalmology
- Genetics
- Vascular Medicine
Background:
- Retinal vein occlusion (RVO) is a leading cause of vision loss.
- Thrombophilia, a predisposition to thrombosis due to genetic factors, can increase vascular risk.
Observation:
- A case study of a 55-year-old male with acute visual loss and central retinal vein occlusion (CRVO) with macular edema.
- The patient had no prior neurological or vascular disease history.
- Examination revealed optic nerve head edema and fluorescein angiography confirmed nonischemic CRVO.
Findings:
- Blood tests identified a heterozygous A1298C mutation in the methylenetetrahydrofolate reductase (MTHFR) gene.
- Slightly elevated cholesterol levels were also noted.
- The patient's vision improved and macular edema resolved after intravitreal anti-VEGF treatment (Bevacizumab).
Implications:
- This case highlights the potential role of thrombophilia, specifically MTHFR gene mutations, in the etiology of RVO.
- An interdisciplinary approach is crucial for managing complex RVO cases.
- Further research with larger cohorts is needed to establish the definitive role of MTHFR gene variants in RVO.
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