Identifying a high polygenic risk for glaucoma will allow us to identify glaucoma patients at risk for rapid structural and functional glaucoma progression

The Science behind the Tip

The identification of an individual´s genetic risk of a disease is increasingly recognized as a tool in disease risk prediction. In glaucoma terms, patients with high genetic risk are those individuals with the presence of a high polygenic risk score which has been shown to confer a risk of developing glaucoma similar for carriers of common genes associated with primary open angle glaucoma such as MYOC gene. High polygenic risk individuals have a greater likelihood of glaucoma progression (rapid visual field worsening and a higher rate of retinal nerve fiber layer thinning) compared with low-genetic risk individuals (2,3). Incorporating these findings in clinical practice is currently challenging but will allow glaucoma specialists to identify individuals who are more susceptible to progression and who may benefit from earlier or more intensive treatments, lower target IOP and more frequent monitoring (3).

References

1. Siggs OM, Qassim A, Han X, Marshall HN, Mullany S, He W, Souzeau E, Galanopoulos A, Agar A, Landers J, Casson RJ, Hewitt AW, Healey PR, Graham SL, MacGregor S, Craig JE. Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma. JAMA Ophthalmol. 2022 Nov 10;141(1):73–7Sekimitsu S, Xiang D, Smith SL, Curran K, Elze T, Friedman DS, Foster PJ, Luo Y, Pasquale LR, Peto T, Segrè AV, Shweikh Y, Warwick A, Zhao Y, Wiggs JL, Zebardast N; UK Biobank Eye and Vision Consortium. Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden. JAMA Ophthalmol. 2023 Aug 17:e233645.
2. Cooke Bailey JN, Funk KL, Cruz LA, Waksmunski AR, Kinzy TG, Wiggs JL, Hauser MA. Diversity in Polygenic Risk of Primary Open-Angle Glaucoma. Genes (Basel). 2022 Dec 30;14(1):111.
3. Cooke Bailey JN, Funk KL, Cruz LA, Waksmunski AR, Kinzy TG, Wiggs JL, Hauser MA. Diversity in Polygenic Risk of Primary Open-Angle Glaucoma. Genes (Basel). 2022 Dec 30;14(1):111.
   
   Contributor: *Laura Morales Fernández, Julián García Feijoó (Hospital Clínico San Carlos, Madrid, Spain)

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