Genetics of glaucoma

JL Wiggs, LR Pasquale - Human molecular genetics, 2017 - academic.oup.com
Genetic and genomic studies, including genome-wide association studies (GWAS) have
accelerated the discovery of genes contributing to glaucoma, the leading cause of …

The genetic basis for adult onset glaucoma: recent advances and future directions

Z Wang, JL Wiggs, T Aung, AP Khawaja… - Progress in Retinal and …, 2022 - Elsevier
Glaucoma, a diverse group of eye disorders that results in the degeneration of retinal
ganglion cells, is the world's leading cause of irreversible blindness. Apart from age and …

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

Y Shiga, M Akiyama, KM Nishiguchi… - Human molecular …, 2018 - academic.oup.com
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness
worldwide for which 15 disease-associated loci had been discovered. Among them, only 5 …

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

T Aung, M Ozaki, MC Lee, U Schlötzer-Schrehardt… - Nature …, 2017 - nature.com
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma
and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A …

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

CC Khor, T Do, H Jia, M Nakano, R George… - Nature …, 2016 - nature.com
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We
conducted a genome-wide association study (GWAS) followed by replication in a combined …

Major review: exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology

IF Aboobakar, WM Johnson, WD Stamer… - Experimental eye …, 2017 - Elsevier
Exfoliation syndrome (XFS) is a common age-related disorder that leads to deposition of
extracellular fibrillar material throughout the body. The most recognized disease …

Molecular genetics of glaucoma: Subtype and ethnicity considerations

R Zukerman, A Harris, A Verticchio Vercellin, B Siesky… - Genes, 2020 - mdpi.com
Glaucoma, the world's leading cause of irreversible blindness, is a complex disease, with
differential presentation as well as ethnic and geographic disparities. The multifactorial …

Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma

MD Drewry, P Challa, JG Kuchtey… - Human molecular …, 2018 - academic.oup.com
Both exfoliation glaucoma (XFG) and primary open-angle glaucoma (POAG) have been
linked to decreased conventional outflow of aqueous humor (AH). To better understand the …

Pseudoexfoliation syndrome and glaucoma: from genes to disease mechanisms

U Schlötzer-Schrehardt, CC Khor - Current Opinion in …, 2021 - journals.lww.com
PEX-associated genes are beginning to reveal relevant biological pathways and processes
involved in disease development. To understand the functional consequences and …

Primary open angle glaucoma prevalence in Europe: a systematic review and meta-analysis

GG Afflitto, F Aiello, M Cesareo, C Nucci - Journal of Glaucoma, 2022 - journals.lww.com
Purpose: This study aimed to evaluate the prevalence of POAG in Europe. Methods: Two
authors independently conducted a systematic literature search on PubMed/MedLine, Web …