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Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability
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Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S
Ahra Cho1,2, Sara D Ragi1,2, Jin Kyun Oh1,3,4
1Department of Ophthalmology, Columbia University, New York, NY, USA.
Molecular Genetics & Genomic Medicine
|April 30, 2020
Summary
A patient with MTHFR C677T variant and protein S deficiency experienced multiple retinal vein occlusions. This case highlights the link between genetic factors, blood clotting disorders, and vascular events, emphasizing the need for preventative care.
Area of Science:
- Genetics and Molecular Biology
- Ophthalmology
- Hematology
Background:
- The C677T variant of the MTHFR gene is linked to various health issues, including thromboembolism.
- Protein S deficiency also increases the risk of thromboembolic events.
- This report details a patient with combined MTHFR C677T variant and protein S deficiency presenting with retinal vein occlusions.
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