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Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review

The present paper explores genetic polymorphism and its association with thromboembolic retinal venous disorders, such as central/hemi-retinal vein occlusion, as well as possible correlations with other ocular findings, such as closed angle glaucoma, but also with autoimmune general disorders. In th...

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Autores principales: Romanitan, Mihaela Oana, Popa-Cherecheanu, Matei, Vasile, Victor Andrei, Stanca, Simona, Iancu, George, Zemba, Mihail, Branisteanu, Daniel, Iancu, Raluca, Pirvulescu, Ruxandra Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10093669/
https://www.ncbi.nlm.nih.gov/pubmed/37046485
http://dx.doi.org/10.3390/diagnostics13071267
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author Romanitan, Mihaela Oana
Popa-Cherecheanu, Matei
Vasile, Victor Andrei
Stanca, Simona
Iancu, George
Zemba, Mihail
Branisteanu, Daniel
Iancu, Raluca
Pirvulescu, Ruxandra Angela
author_facet Romanitan, Mihaela Oana
Popa-Cherecheanu, Matei
Vasile, Victor Andrei
Stanca, Simona
Iancu, George
Zemba, Mihail
Branisteanu, Daniel
Iancu, Raluca
Pirvulescu, Ruxandra Angela
author_sort Romanitan, Mihaela Oana
collection PubMed
description The present paper explores genetic polymorphism and its association with thromboembolic retinal venous disorders, such as central/hemi-retinal vein occlusion, as well as possible correlations with other ocular findings, such as closed angle glaucoma, but also with autoimmune general disorders. In this review, we are highlighting the importance of establishing a correspondence between all of the above, since they all have complex etiopathogeneses; sometimes, when all coexist together, they could generate effects that may be very difficult to manage. There are studies supporting that genetic polymorphism, such as the variant MTHFR A1298C, may increase the risk for developing glaucoma, especially in the heterozygote model. Being aware of all these aspects may prove to be useful in patients with several associated diseases, as a combined effort between several medical specialties may prove to the benefit of these patients. Our review, completed with an exemplifying clinical case, shows that it is necessary to raise awareness of all aspects of a complex medical situation, including the genetic one, of a patient being at risk for thromboembolic episodes, for preventing them or managing them promptly and properly in the future.
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spelling pubmed-100936692023-04-13 Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review Romanitan, Mihaela Oana Popa-Cherecheanu, Matei Vasile, Victor Andrei Stanca, Simona Iancu, George Zemba, Mihail Branisteanu, Daniel Iancu, Raluca Pirvulescu, Ruxandra Angela Diagnostics (Basel) Review The present paper explores genetic polymorphism and its association with thromboembolic retinal venous disorders, such as central/hemi-retinal vein occlusion, as well as possible correlations with other ocular findings, such as closed angle glaucoma, but also with autoimmune general disorders. In this review, we are highlighting the importance of establishing a correspondence between all of the above, since they all have complex etiopathogeneses; sometimes, when all coexist together, they could generate effects that may be very difficult to manage. There are studies supporting that genetic polymorphism, such as the variant MTHFR A1298C, may increase the risk for developing glaucoma, especially in the heterozygote model. Being aware of all these aspects may prove to be useful in patients with several associated diseases, as a combined effort between several medical specialties may prove to the benefit of these patients. Our review, completed with an exemplifying clinical case, shows that it is necessary to raise awareness of all aspects of a complex medical situation, including the genetic one, of a patient being at risk for thromboembolic episodes, for preventing them or managing them promptly and properly in the future. MDPI 2023-03-27 /pmc/articles/PMC10093669/ /pubmed/37046485 http://dx.doi.org/10.3390/diagnostics13071267 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Romanitan, Mihaela Oana
Popa-Cherecheanu, Matei
Vasile, Victor Andrei
Stanca, Simona
Iancu, George
Zemba, Mihail
Branisteanu, Daniel
Iancu, Raluca
Pirvulescu, Ruxandra Angela
Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review
title Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review
title_full Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review
title_fullStr Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review
title_full_unstemmed Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review
title_short Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review
title_sort highlights on genetic polymorphism associated with thromboembolic risk; implications in ophthalmic and autoimmune disorders—a review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10093669/
https://www.ncbi.nlm.nih.gov/pubmed/37046485
http://dx.doi.org/10.3390/diagnostics13071267
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