Progress in Translating Glaucoma Genetics Into the Clinic: A Review.
Clin Exp Ophthalmol
Flinders Health and Medical Research Institution, Flinders University, Adelaide, Australia.
Published: February 2025
Precision medicine is paving the way for personalised risk assessment, and its translation into glaucoma clinics holds potential to change current management paradigms. Our understanding of glaucoma's genetic architecture has expanded in recent years, recognising both monogenic and polygenic contributions. Genetic testing within glaucoma populations can provide additional information for clinicians to support decision-making. Here, we review the evidence base for genetic variants strongly associated with glaucoma and outline a vision for translating these learnings into the clinic. Integrating clinical and genetic information will provide clinicians and patients with the strongest evidence to deliver personalised glaucoma management.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/ceo.14500 | DOI Listing |
Similar Publications
The Association of Social Determinants of Health on Monitoring for Disease Progression Among Patients With Primary Open-Angle Glaucoma.
Transl Vis Sci Technol
March 2025
Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Purpose: To examine the association of race, ethnicity, and other social determinants of health (SDH) on receipt of optic nerve (ON) evaluation in accordance with National Quality Forum (NQF) and the American Academy of Ophthalmology (AAO) guideline-based metrics.
Methods: This was a retrospective cohort study consisting of 13,582 patients with POAG receiving care across 12 tertiary care health. The odds of receiving ≥1 ON evaluations to monitor for glaucoma progression over 45 months of follow-up was evaluated.
Biomechanical Strain Responses in the Sclera, Choroid, and Retina in Glaucoma Patients After Intraocular Pressure Lowering.
J Biomech Eng
March 2025
Wilmer Ophthalmological Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Department of Mechanical Engineering, The Johns Hopkins University, Baltimore, MD, 21218, USA.
This study measured the strain response to intraocular pressure (IOP) change in the sclera, choroid, and retina of glaucoma patients whose optic nerve head region was imaged by optical coherence tomography (OCT) prior to and after IOP-lowering by laser suturelysis following trabeculectomy surgery. The strain response was calculated from digital volume correlation of the prior and after images. The strain response of the sclera, choroid, and retina were compared to those previously published for the anterior lamina cribrosa (ALC).
View Article and Find Full Text PDFRetinoid X receptor agonist 9CDHRA mitigates retinal ganglion cell apoptosis and neuroinflammation in a mouse model of glaucoma.
FASEB J
March 2025
Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia.
Glaucoma, a leading cause of irreversible blindness, is characterized by the progressive loss of retinal ganglion cells (RGCs) and optic nerve damage, often associated with elevated intraocular pressure (IOP). Retinoid X receptors (RXRs) are ligand-activated transcription factors crucial for neuroprotection, as they regulate gene expression to promote neuronal survival via several biochemical networks and reduce neuroinflammation. This study investigated the therapeutic potential of 9-cis-13,14-dihydroretinoic acid (9CDHRA), an endogenous retinoid RXR agonist, in mitigating RGC degeneration in a high-IOP-induced experimental model of glaucoma.
View Article and Find Full Text PDFCore genes and immune dysregulation in primary open-angle glaucoma: A molecular insight.
Technol Health Care
December 2024
Institute of Ophthalmology, Anhui University of Science and Technology, Huainan, Anhui Province, China.
BackgroundPrimary open-angle glaucoma (POAG) is a chronic, progressive and irreversible eye disease. Currently, there is no effective way to prevent optic nerve damage.ObjectiveThis study explored POAG gene markers to identify high-risk groups at an early stage and to find new effective therapeutic targets.
View Article and Find Full Text PDFFighting Bleb Fibrosis After Glaucoma Surgery: Updated Focus on Key Players and Novel Targets for Therapy.
Int J Mol Sci
March 2025
Ophthalmology Clinic, Department of Medicine and Aging Sciences, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Filtration bleb (FB) fibrosis represents the primary risk factor for glaucoma filtration surgery (GFS) failure. We reviewed the most recent literature on post-GFS fibrosis in humans, focusing on novel molecular pathways and antifibrotic treatments. Three main literature searches were conducted.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!
© LitMetric 2025. All rights reserved.