Primary open-angle glaucoma

YH Kwon, JH Fingert, MH Kuehn… - New England Journal …, 2009 - Mass Medical Soc
Primary Open-Angle Glaucoma | New England Journal of Medicine Skip to main content The
New England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES …

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 …

Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine

ME Fini, SG Schwartz, X Gao, S Jeong, N Patel… - Progress in retinal and …, 2017 - Elsevier
Elevation of intraocular pressure (IOP) due to therapeutic use of glucocorticoids is called
steroid-induced ocular hypertension (SIOH); this can lead to steroid-induced glaucoma …

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

N Jacobson, M Andrews, AR Shepard… - Human molecular …, 2001 - academic.oup.com
Until recently, very little was known about the molecular mechanisms responsible for the
development of glaucoma, a leading cause of blindness worldwide. Mutations in the …

Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

BS Kim, OV Savinova, MV Reedy, J Martin… - … and cellular biology, 2001 - Taylor & Francis
Glaucoma is a heterogeneous eye disease and a major cause of blindness worldwide.
Recently, primary open angle glaucoma (POAG)-associated mutations have been found in …

Genetic etiologies of glaucoma

JL Wiggs - Archives of ophthalmology, 2007 - jamanetwork.com
Glaucoma can be inherited as a mendelian autosomal-dominant or autosomal-recessive
trait, or as a complex multifactorial trait. Genetic approaches have helped define the …

Myocilin glaucoma

JH Fingert, EM Stone, VC Sheffield… - Survey of ophthalmology, 2002 - Elsevier
Genetic factors have long been implicated in the pathophysiology of primary open-angle
glaucoma (POAG). Recently, myocilin, a gene of unknown function, was associated with …

Myocilin and glaucoma: facts and ideas

ER Tamm - Progress in retinal and eye research, 2002 - Elsevier
Mutations in the MYOC gene that encodes for myocilin are causative for some forms of
juvenile and adult-onset primary open-angle glaucoma (POAG). Myocilin is a secreted 55 …

Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells

MK Joe, S Sohn, W Hur, Y Moon, YR Choi… - … and biophysical research …, 2003 - Elsevier
MYOC encoding a 55kDa secretory glycoprotein named myocilin is closely linked to primary
open-angle glaucoma (POAG). To understand a role played by MYOC in glaucoma, we …

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma

Y Liu, D Vollrath - Human molecular genetics, 2004 - academic.oup.com
Glaucoma is a progressive blinding disease characterized by gradual loss of vision due to
optic neuropathy and retinal ganglion cell death. Increased intraocular pressure is a …