Major review: Molecular genetics of primary open-angle glaucoma

Y Liu, RR Allingham - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …

The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology

SF Janssen, TGMF Gorgels, WD Ramdas… - Progress in retinal and …, 2013 - Elsevier
Primary open angle glaucoma (POAG) is a complex progressive optic nerve neuropathy
triggered by both environmental and genetic risk factors. Several ocular tissues, including …

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

KP Burdon, S Macgregor, AW Hewitt, S Sharma… - Nature …, 2011 - nature.com
We report a genome-wide association study for open-angle glaucoma (OAG) blindness
using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 …

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya… - Nature …, 2013 - nature.com
Central corneal thickness (CCT) is associated with eye conditions including keratoconus
and glaucoma. We performed a meta-analysis on> 20,000 individuals in European and …

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

P Gharahkhani, KP Burdon, R Fogarty, S Sharma… - Nature …, 2014 - nature.com
Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide.
We performed a genome-wide association study in an Australian discovery cohort …

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

G Thorleifsson, GB Walters, AW Hewitt, G Masson… - Nature …, 2010 - nature.com
We conducted a genome-wide association study for primary open-angle glaucoma (POAG)
in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a …

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

JH Fingert, AL Robin, JL Stone, BR Roos… - Human molecular …, 2011 - academic.oup.com
We report identification of a novel genetic locus (GLC1P) for normal tension glaucoma
(NTG) on chromosome 12q14 using linkage studies of an African-American pedigree …

The intertwined roles of oxidative stress and endoplasmic reticulum stress in glaucoma

DJ Hurley, C Normile, M Irnaten, C O'Brien - Antioxidants, 2022 - mdpi.com
Glaucoma is the leading cause of irreversible blindness worldwide, and the burden of the
disease continues to grow as the global population ages. Currently, the only treatment …

Common genetic variants associated with open-angle glaucoma

WD Ramdas, LME van Koolwijk… - Human molecular …, 2011 - academic.oup.com
Open-angle glaucoma (glaucoma) is a major eye disorder characterized by optic disc
pathology. Recent genome-wide association studies identified new loci associated with …

Glaucoma: genes, phenotypes, and new directions for therapy

BJ Fan, JL Wiggs - The Journal of clinical investigation, 2010 - Am Soc Clin Investig
Glaucoma, a leading cause of blindness worldwide, is characterized by progressive optic
nerve damage, usually associated with intraocular pressure. Although the clinical …