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 …
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 …
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 …
childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor …
The genetic basis for adult onset glaucoma: recent advances and future directions
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 …
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 …
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 …
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 …
onset forms of glaucoma. The proteins encoded by the current collection of glaucoma genes …
Role of glia in optic nerve
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 …
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 …
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 …
currently known to cause inherited forms of glaucoma with onset before age 20. While all the …