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Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy
Genes & Diseases ( IF 6.8 ) Pub Date : 2021-02-27 , DOI: 10.1016/j.gendis.2021.02.009
Yanhui Deng 1, 2 , Lifeng Qiao 3 , Mingyan Du 1, 2 , Chao Qu 3 , Ling Wan 3 , Jie Li 3 , Lulin Huang 1, 4
Affiliation  

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 CFH and ARMS2/HTRA1 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.



中文翻译:

年龄相关性黄斑变性:流行病学、遗传学、病理生理学、诊断和靶向治疗

年龄相关性黄斑变性 (AMD) 是一种复杂的眼部疾病,是全球老年人无法治愈的失明的主要原因。临床上,AMD 最初影响称为黄斑的视网膜中央区域,分为早期至晚期(晚期 AMD)。晚期 AMD 分为非渗出型或萎缩型(干性 AMD)和渗出型或新生血管型(湿性 AMD)。更严重的视力丧失通常与潮湿形式有关。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。AMD 的遗传失调占疾病贡献的 46%–71%,CFHARMS2/HTRA1是迄今为止已确定的 103 个 AMD 相关位点中两个最显着的风险位点。长期吸烟是 AMD 最常被证明具有风险的生活习惯。开发了基于图像识别的深度学习算法,以高精度区分湿性 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 iPSC 衍生的 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。

更新日期:2021-02-27
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