Advances in genetic study of primary open angle glaucoma

Authors: Yao Yihua,  Zhu Yihua,  Yang Juhua

DOI: 10.3760/cma.j.issn.2095-0160.2017.06.018
Published 2017-06-10
Cite as Chin J Exp Ophthalmol, 2017,35(06): 572-576.

Abstract

Primary open angle glaucoma (POAG) is a complex and heterogeneous neurodegenerative disease caused by genetic and environmental factors, and it is also one of the leading causes of irreversible blindness worldwide.Recent molecular genetic studies revealed that numbers of susceptible gene variants are associated with POAG, and the researching technology includes genome wide association study and whole exon sequence.Studies of POAG families discovered 16 loci linked to the disease.To date, three genes were reported to be the causative genes of POAG, they are these studies MYOC, OPTN and WDR36.Other causative or presumably causative genes are thought to contribute to POAG, such as NTF4 and TBK1.Genetic factor for the path ogenesis POAG is being widely concerned, and provides a solid foundation for genetic research and gene therapy of this disease.In this paper, we reviewed a comprehensive discussion of the genetics and research strategies of POAG.

Key words:

Glaucoma, primary open angle; Genetics; Causative gene

Contributor Information

Yao Yihua
Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 350004, China
Zhu Yihua
Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 350004, China
Yang Juhua
Biomedical Engineering Center, Fujian Medical University, Fuzhou 350004, China
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Updated: September 4, 2019 — 1:02 pm