{"title":"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","authors":"Anastasia Tsiogka, Georgios Vlachos, Athanasios Galanopoulos, Tryfon Rotsos, Stylianos Kandarakis, Anthi Nikolopoulou, Efthymios Karmiris, Klio I Chatzistefanou","doi":"10.1080/01658107.2024.2402725","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 3","pages":"193-199"},"PeriodicalIF":0.8000,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970751/pdf/","citationCount":"0","resultStr":"{\"title\":\"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.\",\"authors\":\"Anastasia Tsiogka, Georgios Vlachos, Athanasios Galanopoulos, Tryfon Rotsos, Stylianos Kandarakis, Anthi Nikolopoulou, Efthymios Karmiris, Klio I Chatzistefanou\",\"doi\":\"10.1080/01658107.2024.2402725\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":19257,\"journal\":{\"name\":\"Neuro-Ophthalmology\",\"volume\":\"49 3\",\"pages\":\"193-199\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2024-09-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970751/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neuro-Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/01658107.2024.2402725\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuro-Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/01658107.2024.2402725","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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.
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.