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Clin Exp OphthalmolFebruary 20253 citations

Progress in Translating Glaucoma Genetics Into the Clinic: A Review.

Kolovos Antonia, Maxwell Giorgina, Souzeau Emmanuelle, Craig Jamie E


AI Summary

This review highlights that understanding glaucoma genetics (monogenic/polygenic) offers clinicians valuable information for personalized risk assessment and treatment, moving towards precision medicine in glaucoma care.

Abstract

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.


MeSH Terms

HumansGlaucomaGenetic TestingPrecision MedicineGenetic Predisposition to DiseaseTranslational Research, BiomedicalIntraocular Pressure

Key Concepts4

Integrating clinical and genetic information will provide clinicians and patients with the strongest evidence to deliver personalised glaucoma management.

TreatmentReviewn=Not applicableCh1Ch9Ch28

Precision medicine, which allows for personalised risk assessment, has the potential to change current management paradigms in glaucoma clinics.

TreatmentReviewn=Not applicableCh1Ch28

The genetic architecture of glaucoma includes both monogenic and polygenic contributions.

MechanismReviewn=Not applicableCh9

Genetic testing in glaucoma populations can provide additional information for clinicians to support decision-making.

DiagnosisReviewn=Not applicableCh9Ch28

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