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与凝血酶原基因(F2)变体 G20210A 相关的中央视网膜动脉阻塞和对侧眼一过性黑矇:一例报告。

Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report.

机构信息

Neuroscience Research Group NeURos, Escuela de Medicina y Ciencias de la salud, Universidad del Rosario, Bogotá, Colombia.

Escuela Superior de Oftalmología - Instituto Barraquer de América, Bogotá, Colombia.

出版信息

Ophthalmic Genet. 2022 Oct;43(5):646-652. doi: 10.1080/13816810.2022.2068039. Epub 2022 May 16.

Abstract

PURPOSE

Report the case of a patient with a history of central retinal artery occlusion in her right eye and amaurosis fugax associated with acute ischemic changes in her left eye related to a prothrombin G20210A gene variant, in which OCT-A was used as a diagnostic and therapeutic tool.

CASE PRESENTATION

55-year-old woman with a history of central retinal artery occlusion in her right eye and prothrombin gene G20210A (F2) variant diagnosis. She presented to our consultation with amaurosis fugax in her left eye. As medical history, she had an episode of bilateral posterior scleritis diagnosed asynchronously with the current episode. Vascular, autoimmune, and metabolic prothrombotic diseases were ruled out. OCT-A showed areas suggesting acute ischemia consistent with macular retinopathy in her left eye. Anticoagulant therapy with Apixaban was initiated, considering the risk for her vision. Control OCT-A showed perfusion improvement in the previous site of the occlusive vascular event. We also considered the extent of the inflammatory response due to posterior scleritis as a differential diagnosis. Nevertheless, it is less likely, considering the temporality between scleritis and the retinal-vascular episodes.

CONCLUSIONS

While the G20210A prothrombin gene (F2) variant is a rare cause of retinal artery occlusion, it is important to consider it a differential diagnosis. Good visual outcomes can be achieved with prompt initiation of antithrombotic treatment. In addition, OCT-A is useful for diagnosing ischemic retinal changes that cannot be observed with other diagnostic methods and monitoring them.

摘要

目的

报告一例右眼曾发生中央视网膜动脉阻塞和左眼发生伴急性缺血性改变的一过性黑矇患者病例,其与凝血酶原 G20210A 基因突变相关,OCT-A 在此病例中被用作诊断和治疗工具。

病例介绍

一名 55 岁女性,右眼曾发生中央视网膜动脉阻塞,诊断为凝血酶原基因 G20210A(F2)变体。她因左眼一过性黑矇就诊于我院。患者有双侧后部巩膜炎病史,与本次发病不同步。已排除血管性、自身免疫性和代谢性血栓前疾病。OCT-A 显示左眼存在与黄斑视网膜病变一致的急性缺血区域。鉴于其视力风险,启动了抗凝治疗(阿哌沙班)。控制 OCT-A 显示闭塞性血管事件先前部位的灌注改善。由于后部巩膜炎的炎症反应程度,我们也考虑了其作为鉴别诊断的可能性。然而,鉴于巩膜炎和视网膜血管事件之间的时间关系,这种可能性较小。

结论

虽然凝血酶原 G20210A 基因(F2)变体是视网膜动脉阻塞的罕见原因,但将其作为鉴别诊断非常重要。及时启动抗血栓治疗可获得良好的视力预后。此外,OCT-A 对于诊断其他诊断方法无法观察到的缺血性视网膜改变以及监测这些改变非常有用。

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