基于定量磁敏感图和ApoE基因检测的原发性开角型青光眼患者脑内铁稳态失衡机制研究

青光眼是全球首位不可逆致盲性眼病。原发性开角型青光眼（POAG）发病机制不清，误漏诊率高且治疗效果差。越来越多的证据表明POAG是神经退行性疾病，且与ApoE ε4基因及铁沉积异常显著相关。但POAG患者脑内是否存在铁沉积异常？铁沉积异常是否为神经退变的重要致病因素？ApoE ε4基因是否为铁沉积异常的危险因素？据此提出假说：POAG患者相关脑区存在明显铁沉积异常，并且与疾病严重程度相关，而ApoE ε4基因是其危险因素。拟采用定量磁敏感图研究POAG、高眼压症以及正常人脑内铁含量的差异及其与疾病严重程度、精神心理学评分、血清铁蛋白水平和脑脊液铁蛋白水平的相关性，对比无ApoE ε4组及有ApoE ε4组患者脑内铁沉积的差异，揭示铁代谢和ApoE ε4基因在POAG神经退行性改变机制中的作用，为POAG早期准确诊断和开发新的治疗方式提供重要依据。

Glaucoma is the leading cause of irreversible vision loss globally. The pathogenetic mechanisms of primary open-angle glaucoma (POAG) is unclear. Therefore, the clinical diagnostic accuracy is low and the prognosis is poor. Increasing evidence shows that POAG is a neurodegenerative disease, and the neurodegeneration is significantly associated with ApoE ε4 and iron deposition. However, is there iron deposition in the brain of POAG? Is it strongly associated with the neurodegeneration? Is ApoE ε4 gene a risk factor for iron deposition? To answer these questions, we hypothesize that there is obvious iron deposition in the brain of POAG patients, which is correlated with disease severity, and ApoE ε4 gene is a risk factor for that. We will imply quantitative susceptibility mapping (QSM) to compare the iron levels in the brains of POAG patients, patients with ocular hypertension and normal controls. Then the correlations between iron deposition in the brain and the disease severity, cognitive conditions, psychiatric conditions and the concentration of ferritin in the serum and cerebrospinal fluid will be analyzed. Moreover, the iron deposition of POAG patients without ApoE ε4 gene and patients with ApoE ε4 will be compared. The results will help to explore the roles of ApoE ε4 gene and unbalance of iron homeostasis in the mechanisms of neurodegeneration of POAG， and to provide evidence for improving early detection of the disease and new treatment strategy.