| Literature DB >> 35037362 |
Inas F Aboobakar1, Janey L Wiggs1.
Abstract
Glaucoma refers to a heterogenous group of disorders characterised by progressive loss of retinal ganglion cells and associated visual field loss. Both early-onset and adult-onset forms of the disease have a strong genetic component. Here, we summarise the known genetic associations for various forms of glaucoma and the possible functional roles for these genes in disease pathogenesis. We also discuss efforts to translate genetic knowledge into clinical practice, including gene-based tests for disease diagnosis and risk-stratification as well as gene-based therapies.Entities:
Keywords: GWAS; congenital glaucoma; gene-based therapy; genetic testing; polygenic risk score (PRS)
Mesh:
Year: 2022 PMID: 35037362 PMCID: PMC9185665 DOI: 10.1111/ceo.14035
Source DB: PubMed Journal: Clin Exp Ophthalmol ISSN: 1442-6404 Impact factor: 4.383