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Subspecialties Glaucoma, Basic & Translational Research

Diagnosis: Glaucoma

A new genetic test that factors in both polygenic and monogenic glaucoma risk variants could result in a 15-fold increase of people being identified as glaucoma suspects (1). Researchers analyzed the association of monogenic and polygenic variants with glaucoma risk – using clinical and genetic data from an Australian/New Zealand glaucoma database (ANZRAG, containing data from 2,507 individuals) and from the UK Biobank (data from 411,337 individuals). Both polygenic and monogenic variants have a comparable risk of developing glaucoma – over a 2.5-fold increase. But high-risk polygenic variants were six times more common than monogenic variants within the ANZRAG database – and more than 15 times more common within the general population (UK Biobank) data. 

Although single gene testing is used clinically, a stratified approach of monogenic and polygenic testing will increase opportunities to save patients’ sight. 

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  1. OM Siggs et al., JAMA Ophthalmol, [Online ahead of print] (2021). PMID: 34264281.

About the Author

Geoffrey Potjewyd

Associate Editor, The Ophthalmologist

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