Progress in Translating Glaucoma Genetics Into the Clinic: A Review

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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.

Original languageEnglish
Pages (from-to)246-259
Number of pages14
JournalClinical and Experimental Ophthalmology
Volume53
Issue number3
Early online date10 Feb 2025
DOIs
Publication statusPublished - Apr 2025

Keywords

  • glaucoma
  • mendelian
  • monogenic
  • polygenic risk scores
  • polygenic scores

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