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Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma

Authors Kondkar AA

Received 8 December 2020

Accepted for publication 18 February 2021

Published 9 March 2021 Volume 2021:14 Pages 89—112


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Prof. Dr. Martin H. Maurer

Altaf A Kondkar1– 3

1Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 2Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 3King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia

Correspondence: Altaf A Kondkar
Department of Ophthalmology, College of Medicine, King Saud University, P. O. Box 245, Riyadh, 11411, Saudi Arabia
Tel +96612825290
Fax +96614775724
Email [email protected]

Abstract: Primary angle-closure glaucoma (PACG) is estimated to affect over 30 million people worldwide by 2040 and is highly prevalent in the Asian population. PACG is more severe and carries three times the higher risk of blindness than primary open-angle glaucoma, thus representing a significant public health concern. High heritability and ethnic-specific predisposition to PACG suggest the involvement of genetic factors in disease development. In the recent past, genetic studies have led to the successful identification of several genes and loci associated with PACG across different ethnicities. The precise cellular and molecular roles of these multiple loci in the development and progression of PACG remains to be elucidated. Nonetheless, these studies have significantly increased our understanding of the emerging cellular processes and biological pathways that might provide more significant insights into the disease’s genetic etiology and may be valuable for future clinical applications. This review aims to summarize and update the current knowledge of PACG genetics analysis research.

Keywords: angle-closure, candidate genes, extracellular matrix, genetics, glaucoma, GWAS, PACG, pathways, polymorphisms, trabecular meshwork

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