Primary open-angle glaucoma

RN Weinreb, CKS Leung, JG Crowston… - Nature reviews Disease …, 2016 - nature.com
Glaucoma is an optic neuropathy that is characterized by the progressive degeneration of
the optic nerve, leading to visual impairment. Glaucoma is the main cause of irreversible …

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 …

[HTML][HTML] Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

T Souma, SW Tompson, BR Thomson… - The Journal of …, 2016 - Am Soc Clin Investig
Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of
childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor …

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 …

EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma

ERA Collantes, MS Delfin, B Fan… - Human …, 2022 - Wiley Online Library
Juvenile open‐angle glaucoma (JOAG) is a severe type of glaucoma with onset before age
40 and dominant inheritance. Using exome sequencing we identified 3 independent families …

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 …

Glaucoma genes and mechanisms

JL Wiggs - Progress in molecular biology and translational …, 2015 - Elsevier
Genetic studies have yielded important genes contributing to both early-onset and adult-
onset forms of glaucoma. The proteins encoded by the current collection of glaucoma genes …

Role of glia in optic nerve

M Yazdankhah, P Shang, S Ghosh, S Hose… - Progress in retinal and …, 2021 - Elsevier
Glial cells are critically important for maintenance of neuronal activity in the central nervous
system (CNS), including the optic nerve (ON). However, the ON has several unique …

[HTML][HTML] SVEP1 as a genetic modifier of TEK-related primary congenital glaucoma

TL Young, KN Whisenhunt, J Jin… - … & visual science, 2020 - iovs.arvojournals.org
Purpose: Affecting children by age 3, primary congenital glaucoma (PCG) can cause
debilitating vision loss by the developmental impairment of aqueous drainage resulting in …

Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss

AC Gauthier, JL Wiggs - Experimental eye research, 2020 - Elsevier
Childhood glaucoma is an important cause of blindness world-wide. Eleven genes are
currently known to cause inherited forms of glaucoma with onset before age 20. While all the …