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Related Experiment Video

Updated: Feb 15, 2026

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
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Are we ready for genetic testing for primary open-angle glaucoma?

Anthony P Khawaja1, Ananth C Viswanathan2

  • 1NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK. anthony.khawaja@ucl.ac.uk.

Eye (London, England)
|January 31, 2018
PubMed
Summary
This summary is machine-generated.

Genetic testing advances glaucoma understanding, but population-level genetic screening for primary open-angle glaucoma (POAG) is not yet clinically justified. However, targeted genetic testing benefits relatives of POAG patients with known mutations.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Genomics

Background:

  • Glaucoma is a leading cause of blindness and a significant burden on healthcare systems.
  • Advances in genotyping technology have accelerated research into the genetic underpinnings of glaucoma.
  • Understanding glaucoma genetics offers potential for personalized patient management and resource allocation.

Purpose of the Study:

  • To review recent discoveries in glaucoma genetics.
  • To discuss the clinical utility of genetic testing in glaucoma management.

Main Methods:

  • Review of current literature on genome-wide association studies (GWAS) and genetic variants in primary open-angle glaucoma (POAG).
  • Analysis of the predictive value and clinical applicability of identified genetic markers.

Main Results:

  • Over ten genes associated with POAG have been identified through GWAS, but individual variants lack predictive power at the population level.
  • Some POAG variants may correlate with disease progression or conversion from ocular hypertension, but require further replication.
  • Genetic testing is beneficial for early-onset inherited glaucoma in relatives of mutation carriers, enabling targeted monitoring or exclusion from care.

Conclusions:

  • Population-level genetic testing for POAG is not currently clinically justified due to insufficient predictive power of identified variants.
  • Targeted genetic testing for specific inherited glaucoma mutations in families offers clear clinical benefits for disease management and healthcare resource optimization.