年龄相关性黄斑变性:流行病学、遗传学、病理生理学、诊断及靶向治疗。
Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy.
作者信息
Deng Yanhui, Qiao Lifeng, Du Mingyan, Qu Chao, Wan Ling, Li Jie, Huang Lulin
机构信息
The Key Laboratory for Human Disease Gene Study of Sichuan Province, Department of Clinical Laboratory, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, PR China.
Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences, Sichuan Academy of Medical Sciences, Chengdu, Sichuan 610072, PR China.
出版信息
Genes Dis. 2021 Feb 27;9(1):62-79. doi: 10.1016/j.gendis.2021.02.009. eCollection 2022 Jan.
Age-related macular degeneration (AMD) is a complex eye disorder and is the leading cause of incurable blindness worldwide in the elderly. Clinically, AMD initially affects the central area of retina known as the macula and it is classified as early stage to late stage (advanced AMD). The advanced AMD is classified into the nonexudative or atrophic form (dry AMD) and the exudative or neovascular form (wet AMD). More severe vision loss is typically associated with the wet form. Multiple genetic factors, lipid metabolism, oxidative stress and aging, play a role in the etiology of AMD. Dysregulation in genetic to AMD is established to 46%-71% of disease contribution, with and to be the two most notable risk loci among the 103 identified AMD associated loci so far. Chronic cigarette smoking is the most proven consistently risk living habits for AMD. Deep learning algorithm has been developed based on image recognition to distinguish wet AMD and normal macula with high accuracy. Currently, anti-vascular endothelial growth factor (VEGF) therapy is highly effective at treating wet AMD. Several new generation AMD drugs and iPSC-derived RPE cell therapy are in the clinical trial stage and are promising to improve AMD treatment in the near future.
年龄相关性黄斑变性(AMD)是一种复杂的眼部疾病,是全球老年人不可治愈性失明的主要原因。临床上,AMD最初影响视网膜的中央区域即黄斑,并被分为早期至晚期(晚期AMD)。晚期AMD分为非渗出性或萎缩性形式(干性AMD)和渗出性或新生血管性形式(湿性AMD)。更严重的视力丧失通常与湿性形式相关。多种遗传因素、脂质代谢、氧化应激和衰老在AMD的病因中起作用。遗传因素对AMD的失调在疾病成因中占比46%-71%,在目前已确定的103个与AMD相关的基因座中, 和 是两个最显著的风险基因座。长期吸烟是最经证实的与AMD相关的不良生活习惯。基于图像识别的深度学习算法已被开发出来,能够高精度地区分湿性AMD和正常黄斑。目前,抗血管内皮生长因子(VEGF)疗法在治疗湿性AMD方面非常有效。几种新一代AMD药物和诱导多能干细胞衍生的视网膜色素上皮(RPE)细胞疗法正处于临床试验阶段,有望在不久的将来改善AMD的治疗。