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Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune
Mihaela Oana Romanitan1, Matei Popa-Cherecheanu2,3, Victor Andrei Vasile2,4,5
1Department for Emergency Internal Medicine and Neurology, Stockholm South General Hospital, 11883 Stockholm, Sweden.
Diagnostics (Basel, Switzerland)
|April 13, 2023
Summary
Genetic variations are linked to retinal vein occlusions and glaucoma. Understanding these genetic links is crucial for managing complex cases and preventing thromboembolic episodes.
Area of Science:
- Ophthalmology
- Genetics
- Internal Medicine
Background:
- Thromboembolic retinal venous disorders and glaucoma share complex etiopathogeneses.
- Co-occurrence of these conditions can lead to challenging clinical management.
- Genetic polymorphism is increasingly recognized as a contributing factor.
Purpose of the Study:
- To explore the association between genetic polymorphism and retinal venous disorders.
- To investigate potential correlations with glaucoma and autoimmune disorders.
- To emphasize the importance of a multidisciplinary approach in managing patients with these complex conditions.
Main Methods:
- Literature review focusing on genetic polymorphism, retinal venous disorders, glaucoma, and autoimmune diseases.
- Analysis of existing studies on genetic variants like MTHFR A1298C.
- Inclusion of an exemplifying clinical case to illustrate management strategies.
Main Results:
- Genetic polymorphism, specifically MTHFR A1298C variant, may increase glaucoma risk, particularly in heterozygotes.
- A complex interplay exists between genetic factors, thromboembolic events, and ocular/systemic disorders.
- Awareness of genetic predispositions aids in proactive patient management.
Conclusions:
- Establishing a correspondence between genetic factors, retinal venous disorders, glaucoma, and autoimmune conditions is vital.
- A comprehensive understanding, including genetic aspects, is necessary for effective prevention and management of thromboembolic episodes.
- Multispecialty collaboration benefits patients with multiple associated diseases.
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