WITHDRAWN: Genetic polymorphism associated with thromboembolic risk in ophthalmic and autoimmune disorders: A case report

Pirvulescu,Ruxandra Angela; Stanca,Horia Tudor; Romanitan,Mihaela Oana; Popa‑Cherecheanu,Matei; Stanca,Simona; Iancu,Raluca

doi:10.3892/etm.2021.10081

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WITHDRAWN: Genetic polymorphism associated with thromboembolic risk in ophthalmic and autoimmune disorders: A case report

Authors:
- Ruxandra Angela Pirvulescu
- Horia Tudor Stanca
- Mihaela Oana Romanitan
- Matei Popa‑Cherecheanu
- Simona Stanca
- Raluca Iancu
View Affiliations / Copyright

Affiliations: Department of Ophthalmology, ‘Carol Davila’ University of Medicine and Pharmacy, 050474 Bucharest, Romania, Department for Emergency Internal Medicine and Neurology, Stockholm South General Hospital, 11883 Stockholm, Sweden, Cardiovascular Surgery Clinic, ‘Prof. Dr. Agrippa Ionescu’ Emergency Clinical Hospital, 011356 Bucharest, Romania, Department of Pediatrics, ‘Carol Davila’ University of Medicine and Pharmacy, 050474 Bucharest, Romania

Copyright: © Pirvulescu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Article Number: 649
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Published online on: April 19, 2021

https://doi.org/10.3892/etm.2021.10081
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Abstract

The aim of the present study was to discuss genetic polymorphism and its association with thromboembolic retinal venous disorders, such as central/hemi‑retinal vein occlusion (CRVO/HRVO), and possible correlations with other ocular findings (such as closed angle glaucoma), but also with autoimmune general disorders. To reinforce the literature data analysis we report the case of a 56‑year‑old female patient, previously known with rheumatoid polyarthritis, oscillating blood pressure and several spontaneous miscarriages, who presented to the ER with sudden vision loss in the right eye and severe headache. The patient was diagnosed with upper HRVO in the right eye, and acute angle closure glaucoma in both eyes. Given the ophthalmological context and the medical background, the patient underwent extensive genetic analysis which identified two mutations, PAI‑1 4G allele and MTHFR A1298C mutation in heterozygosity. These results confirmed the increased risk of the patient to develop venous thromboembolism (VTE) or myocardial infarction, especially when associated with rheumatoid polyarthritis. Being aware of all the aspects of a complex medical situation, including the genetic one, may raise the patient's awareness for being at risk for thromboembolic episodes and for managing them promptly and properly in the future.

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