Advances of genetics of age-related macular degeneration
10.3760/cma.j.cn115989-20200509-00324
- VernacularTitle:年龄相关性黄斑变性遗传学研究进展
- Author:
Jingjing XU
1
;
Yuntao HU
Author Information
1. 清华大学附属北京清华长庚医院眼科 清华大学临床医学院，北京 102218
- From:
Chinese Journal of Experimental Ophthalmology
2020;38(8):715-720
- CountryChina
- Language:Chinese
-
Abstract:
Age-related macular degeneration (AMD) is one of the leading causes of blindness for the elderly over 50, characterized by loss of central vision irreversibly.The mechanism of AMD is not clear.In recent years, researchers have screened a variety of AMD-related genes ( CFH, ARMS2, HTRA1, etc.) and single nucleotide polymorphisms (SNPs) through genome-wide association study (GWAS). By testing these specific loci in high-risk populations, we can predict the risk of AMD, the subtypes, how AMD would develop, and how patients would react to treatment.There are few breakthroughs in the pathogenesis of the disease.Gene therapy focuses on anti-vascular endothelial growth factor (VEGF), complement pathway inhibition and RNA interference, by expressing functional proteins through transfection of adeno-associated virus vectors, but the safety and efficacy remains to be further evaluated.
