Central retinal artery occlusion associated with the G20210A prothrombin gene (F2) mutation: A case report.

Project: Research Project

Project Details

Description

Central retinal artery occlusion is a severe vascular condition that can progress to significant disturbances in visual acuity in about 80% of people. In some cases, this event may be associated with genetic variations such as mutations in the prothrombin (F2) gene. Prothrombin is a precursor to thrombin and is essential for the final phase of the coagulation cascade. An alteration in this gene means that it can lead to peripheral thrombophilic disorders as in the case that we want to report.
Our case, a 55-year-old patient, consulted for acute and transient loss of visual acuity in the left eye, also presenting findings of acute ischemia, consistent with macular neuroretinopathy on OCT-Angio. As history, she presented an occlusion of the central retinal artery in the right eye and the diagnosis of the prothrombin (F2) gene mutation G20210A. In this case, a relationship was evidenced between independent risk factors such as genetics, inflammation, and vasculature with central retinal artery occlusion in the right eye and areas of contralateral retinal ischemia. However, although we believe that the cause of the central retinal artery occlusion was due to the G20210A prothrombin (F2) gene mutation, it may be due to the inflammatory response associated with posterior scleritis or due to an embolism. carotid. Our objective is to report the third case, which presents occlusion of the central retinal artery associated with the prothrombin (F2) gene G20210A mutation.

Keywords

Central Retinal Artery Occlusion, Prothrombin G20210A, Thrombophilia,
Genetic variation.

Commitments / Obligations

Being a case report, it does not require approval from the ethics committee. The authors certify that they obtained the consent and informed assent of the patient. In these, the patient has given consent for their images and clinical information to be reported in the article. The patient understands that neither her name nor her initials will be published and an effort will be made to keep her identity private, however, anonymity cannot be guaranteed.
StatusFinished
Effective start/end date8/13/193/12/20

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This project contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

Main Funding Source

  • Competitive Funds

Location

  • Bogotá D.C.

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