Clin Exp Ophthalmol
Clin Exp OphthalmolMarch 2022Research Support, N.I.H., Extramural

The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review.

Visual FieldOptic Nerve & Disc

Summary

Here, we summarise the known genetic associations for various forms of glaucoma and the possible functional roles for these genes in disease pathogenesis.

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.

Keywords

GWAScongenital glaucomagene-based therapygenetic testingpolygenic risk score (PRS)

Discussion

Comments and discussion will appear here in a future update.