Update on the genetics of primary open-angle glaucoma

H Youngblood, MA Hauser, Y Liu - Experimental eye research, 2019 - Elsevier
Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible
blindness in the world. This ocular disease describes a set of optic neuropathies of which …

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 …

A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma

SS Verma, HV Gudiseva, VRM Chavali, RJ Salowe… - Cell, 2024 - cell.com
Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness
worldwide, disproportionately affects individuals of African ancestry. We conducted a …

Personalizing medicine in Africa: current state, progress and challenges

P Owolabi, Y Adam, E Adebiyi - Frontiers in Genetics, 2023 - frontiersin.org
Personalized medicine has been identified as a powerful tool for addressing the myriad of
health issues facing different health systems globally. Although recent studies have …

Clinical implications of recent advances in primary open-angle glaucoma genetics

H Choquet, JL Wiggs, AP Khawaja - Eye, 2020 - nature.com
Over the last decade, genetic studies, including genome-wide association studies (GWAS),
have accelerated the discovery of genes and genomic regions contributing to primary open …

Latest developments in normal-pressure glaucoma: diagnosis, epidemiology, genetics, etiology, causes and mechanisms to management

JWY Lee, PP Chan, XJ Zhang, LJ Chen… - The Asia-Pacific …, 2019 - journals.lww.com
Normal-pressure glaucoma (NPG) is part of the spectrum of the open-angle glaucomas and
morphologically characterized, as any glaucoma, by a loss of neuroretinal rim parallel to an …

Single-cell multiome of the human retina and deep learning nominate causal variants in complex eye diseases

SK Wang, S Nair, R Li, K Kraft, A Pampari, A Patel… - Cell genomics, 2022 - cell.com
Genome-wide association studies (GWASs) of eye disorders have identified hundreds of
genetic variants associated with ocular disease. However, the vast majority of these variants …

GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans

KS Nair, C Srivastava, RV Brown, S Koli… - Nature …, 2021 - nature.com
Chronically elevated intraocular pressure (IOP) is the major risk factor of primary open-angle
glaucoma, a leading cause of blindness. Dysfunction of the trabecular meshwork (TM) …

Diversity in polygenic risk of primary open-angle glaucoma

JN Cooke Bailey, KL Funk, LA Cruz, AR Waksmunski… - Genes, 2022 - mdpi.com
Glaucoma is the leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common glaucoma subtype, is more prevalent and severe in …

The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities‐A review

IF Aboobakar, JL Wiggs - Clinical & experimental …, 2022 - Wiley Online Library
Glaucoma refers to a heterogenous group of disorders characterised by progressive loss of
retinal ganglion cells and associated visual field loss. Both early‐onset and adult‐onset …