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 …

Molecular genetics of glaucoma: Subtype and ethnicity considerations

R Zukerman, A Harris, A Verticchio Vercellin, B Siesky… - Genes, 2020 - mdpi.com
Glaucoma, the world's leading cause of irreversible blindness, is a complex disease, with
differential presentation as well as ethnic and geographic disparities. The multifactorial …

Glaucoma pathogenesis and neurotrophins: focus on the molecular and genetic basis for therapeutic prospects

N Chitranshi, Y Dheer, M Abbasi, Y You… - Current …, 2018 - ingentaconnect.com
Background: Retinal ganglion cell (RGC) degeneration is a major feature of glaucoma
pathology. Neuroprotective approaches that delay or halt the progression of RGC loss are …

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 …

Caveolar and non-Caveolar Caveolin-1 in ocular homeostasis and disease

EN Enyong, JM Gurley, ML De Ieso, WD Stamer… - Progress in retinal and …, 2022 - Elsevier
Caveolae, specialized plasma membrane invaginations present in most cell types, play
important roles in multiple cellular processes including cell signaling, lipid uptake and …

Caveolins and caveolae in ocular physiology and pathophysiology

X Gu, AM Reagan, ME McClellan, MH Elliott - Progress in retinal and eye …, 2017 - Elsevier
Caveolae are specialized, invaginated plasma membrane domains that are defined
morphologically and by the expression of signature proteins called, caveolins. Caveolae …

Awareness and knowledge of glaucoma and associated factors among adults: a cross sectional study in Gondar Town, Northwest Ethiopia

DS Alemu, AD Gudeta, KL Gebreselassie - BMC ophthalmology, 2017 - Springer
Background Raising public awareness and knowledge about glaucoma is a key for early
case identification and prevention of blindness. However, awareness and knowledge about …

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

PWM Bonnemaijer, AI Iglesias, GN Nadkarni… - Human genetics, 2018 - Springer
Primary open angle glaucoma (POAG) is a complex disease with a major genetic
contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more …

Primary open angle glaucoma genetics: The common variants and their clinical associations

A Trivli, MI Zervou, GN Goulielmos… - Molecular …, 2020 - spandidos-publications.com
Glaucoma is a group of progressive optic neuropathies that have in common characteristic
optic nerve head changes, loss of retinal ganglion cells and visual field defects. Among the …

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

DS Mackay, TM Bennett, A Shiels - PloS one, 2015 - journals.plos.org
Primary open-angle glaucoma (POAG) is a clinically important and genetically
heterogeneous cause of progressive vision loss as a result of retinal ganglion cell death …