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

Yanhui Deng; Lifeng Qiao; Mingyan Du; Chao Qu; Ling Wan; Jie Li; Lulin Huang

doi:10.1016/j.gendis.2021.02.009

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

更新时间：2022-06-24

- Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy
- Genes & Diseases Vol. 9, Issue 1, (2022)
- 作者机构：
  
  1. 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,Sichuan,Chengdu,PR China,610072
  2. Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences, Sichuan Academy of Medical Sciences,Sichuan,Chengdu,PR China,610072
  3. Department of Ophthalmology, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China,Sichuan,Chengdu,PR China,610072
  4. Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences,Sichuan,Chengdu,PR China,610041
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2021.02.009
  CLC：
- Published：2022，
  
  Published Online：1 January 2022，
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Yanhui Deng, Lifeng Qiao, Mingyan Du, et al. Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy. [J]. Genes & Diseases 9(1).(2022)
DOI：

Yanhui Deng, Lifeng Qiao, Mingyan Du, et al. Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy. [J]. Genes & Diseases 9(1).(2022) DOI： 10.1016/j.gendis.2021.02.009.

摘要

Abstract

ge-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.

关键词

Keywords

Age-related macular degenerationDiagnosisGeneticsMechanismTarget treatment

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