Open Access

WITHDRAWN: Genetic polymorphism associated with thromboembolic risk in ophthalmic and autoimmune disorders: A case report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

  • Published online on: April 19, 2021     https://doi.org/10.3892/etm.2021.10081
  • Article Number: 649
  • Copyright: © Pirvulescu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Pirvulescu RA, Stanca HT, Romanitan MO, Popa‑Cherecheanu M, Stanca S and Iancu R: WITHDRAWN: Genetic polymorphism associated with thromboembolic risk in ophthalmic and autoimmune disorders: A case report. Exp Ther Med 21: 649, 1899
APA
Pirvulescu, R.A., Stanca, H.T., Romanitan, M.O., Popa‑Cherecheanu, M., Stanca, S., & Iancu, R. (1899). WITHDRAWN: Genetic polymorphism associated with thromboembolic risk in ophthalmic and autoimmune disorders: A case report. Experimental and Therapeutic Medicine, 21, 649. https://doi.org/10.3892/etm.2021.10081
MLA
Pirvulescu, R. A., Stanca, H. T., Romanitan, M. O., Popa‑Cherecheanu, M., Stanca, S., Iancu, R."WITHDRAWN: Genetic polymorphism associated with thromboembolic risk in ophthalmic and autoimmune disorders: A case report". Experimental and Therapeutic Medicine 21.6 (1899): 649.
Chicago
Pirvulescu, R. A., Stanca, H. T., Romanitan, M. O., Popa‑Cherecheanu, M., Stanca, S., Iancu, R."WITHDRAWN: Genetic polymorphism associated with thromboembolic risk in ophthalmic and autoimmune disorders: A case report". Experimental and Therapeutic Medicine 21, no. 6 (1899): 649. https://doi.org/10.3892/etm.2021.10081