Advances of genetics of age-related macular degeneration

Authors: Xu Jingjing,  Hu Yuntao

DOI: 10.3760/cma.j.cn115989-20200509-00324
Published 2020-08-10
Cite as Chin J Exp Ophthalmol, 2020,38(08): 715-720.

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, ARMS2HTRA1, 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.

Key words:

Age-related macular degeneration; Single nucleotide polymorphism; Genetic diagnosis; Gene therapy

Contributor Information

Xu Jingjing
Department of Ophthalmology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing 102218, China
Hu Yuntao
Department of Ophthalmology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing 102218, China
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Updated: August 19, 2020 — 8:31 am