序列性双侧前缺血性视神经病变中MTHFR基因C6777T突变和凝血酶原基因FII G20210A突变的复合杂合性

IF 0.8 Q4 CLINICAL NEUROLOGY
Neuro-Ophthalmology Pub Date : 2024-09-16 eCollection Date: 2025-01-01 DOI:10.1080/01658107.2024.2402725
Anastasia Tsiogka, Georgios Vlachos, Athanasios Galanopoulos, Tryfon Rotsos, Stylianos Kandarakis, Anthi Nikolopoulou, Efthymios Karmiris, Klio I Chatzistefanou
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引用次数: 0

摘要

非动脉性前部缺血性视神经病变(NA-AION)是老年人群中最常见的急性无痛性,通常为单侧视神经病变。全身危险因素包括糖尿病、动脉高血压、睡眠呼吸暂停综合征和心血管疾病。Α 52岁男性,出现连续的双侧NA-AION,包括第二只受影响的眼睛恶化,严重的视力损害。血栓检测显示MTHFR基因C6777T突变和凝血酶原G20210A (FII突变)存在复合杂合性。开始口服抗凝治疗。全面的全身性和家族史,特别是在没有重大血管病变的情况下,应警惕非典型NA-AION中年患者的血栓形成调查,并应考虑开始抗凝治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Compound Heterozygosity for the C6777T Mutation of the MTHFR Gene and the FII G20210A Mutation of the Prothrombin Gene in Sequential Bilateral Anterior Ischemic Optic Neuropathy.

Nonarteritic anterior ischemic optic neuropathy (NA-AION) is the most common form of acute painless, usually unilateral, optic neuropathy in the elderly population. Systemic risk factors include diabetes mellitus, arterial hypertension, sleep apnea syndrome, and cardiovascular disease. Α 52-year-old man developed sequential, bilateral NA-AION, involving a worsening, severe vision compromising attack in the secondly affected eye. Thrombophilia testing revealed compound heterozygosity for the C6777T mutation of the MTHFR gene and the prothrombin G20210A (FII mutation). Oral anticoagulation treatment was initiated. A thorough systemic and family history, especially in the absence of major vasculopathic disease, should alert toward investigation for thrombophilia in middle-aged patients with atypical forms of NA-AION and initiation of anticoagulant treatment should be considered.

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来源期刊
Neuro-Ophthalmology
Neuro-Ophthalmology 医学-临床神经学
CiteScore
1.80
自引率
0.00%
发文量
51
审稿时长
>12 weeks
期刊介绍: Neuro-Ophthalmology publishes original papers on diagnostic methods in neuro-ophthalmology such as perimetry, neuro-imaging and electro-physiology; on the visual system such as the retina, ocular motor system and the  pupil; on neuro-ophthalmic aspects of the orbit; and on related fields such as migraine and ocular manifestations of neurological diseases.
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