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 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 …

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma

JL Wiggs, BL Yaspan, MA Hauser, JH Kang… - PLoS …, 2012 - journals.plos.org
Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide.
Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk …

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

JH Fingert, E Héon, JM Liebmann… - Human molecular …, 1999 - academic.oup.com
Abstract A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene
within this locus (encoding the protein myocilin) subsequently was shown to harbor …

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1

S Monemi, G Spaeth, A DaSilva… - Human molecular …, 2005 - academic.oup.com
Glaucoma is a leading cause of blindness in virtually every country. Development of an
accurate diagnostic test for presymptomatic detection of individuals at risk is an urgent …

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 …

The genetics of primary open-angle glaucoma: a review

RR Allingham, Y Liu, DJ Rhee - Experimental eye research, 2009 - Elsevier
Glaucoma is the major cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), as the most prevalent form of glaucoma, is a complex inherited disorder …

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie …

H Azzedine, A Bolino, T Taieb, N Birouk… - The American Journal of …, 2003 - cell.com
Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a
heterogeneous group of inherited motor and sensory neuropathies. In some families from …

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 …