Romanitan Mihaela Oana, Popa-Cherecheanu Matei, Vasile Victor Andrei, Stanca Simona, Iancu George, Zemba Mihail, Branisteanu Daniel, Iancu Raluca, Pirvulescu Ruxandra Angela
Department for Emergency Internal Medicine and Neurology, Stockholm South General Hospital, 11883 Stockholm, Sweden.
Department of Ophtalmology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Diagnostics (Basel). 2023 Mar 27;13(7):1267. doi: 10.3390/diagnostics13071267.
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.
本文探讨了基因多态性及其与血栓栓塞性视网膜静脉疾病(如中央/半侧视网膜静脉阻塞)的关联,以及与其他眼部表现(如闭角型青光眼)的可能相关性,还探讨了与自身免疫性全身性疾病的相关性。在本综述中,我们强调了在上述所有情况之间建立对应关系的重要性,因为它们都具有复杂的病因;有时,当所有情况同时存在时,它们可能产生极难处理的影响。有研究支持基因多态性,如MTHFR A1298C变异,可能会增加患青光眼的风险,尤其是在杂合子模型中。了解所有这些方面可能对患有多种相关疾病的患者有用,因为多个医学专科之间的共同努力可能会对这些患者有益。我们的综述结合一个示例性临床病例表明,有必要提高对复杂医疗情况所有方面的认识,包括处于血栓栓塞发作风险的患者的基因方面,以便未来及时、妥善地预防或处理这些情况。