Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy.

Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy.
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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

DOI:
10.1016/j.gendis.2021.02.009
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发表时间:
2022-01
期刊:
影响因子:
6.8
通讯作者:
Huang L
Huang L
中科院分区:
医学2区
文献类型:
--
作者:
Deng Y;Qiao L;Du M;Qu C;Wan L;Li J;Huang L

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视网膜相关性黄斑变性(AMD)是一种复杂的眼部疾病,并且是全世界老年人中不可治愈的失明的主要原因。临床上,AMD最初影响视网膜的中心区域,称为黄斑,并且它被分类为早期至晚期(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的病因学中发挥作用。AMD的遗传调控异常占疾病的46%-71%,其中CFH和ARMS 2/HTRA 1是目前已确定的103个AMD相关基因座中最显著的两个风险基因座。长期吸烟是最被证实的AMD风险生活习惯。基于图像识别开发了深度学习算法,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治疗。
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.
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