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December 27, 2022
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Polygenic risk associated with rate of glaucoma progression

High polygenic risk score in individuals with early or suspected glaucoma was associated with a faster rate of peripapillary retinal nerve fiber layer thinning and visual field worsening, a study found.

“This raises the possibility that when combined with other clinical risk factors, a glaucoma PRS may be a valuable adjunct in determining treatment thresholds and intensity and the onset and frequency of glaucoma surveillance,” the authors wrote.

OSN1222Siggs_ITJ_Graphic_01_WEB
Data derived from Siggs OM, et al. JAMA Ophthalmol. 2022;doi:10.1001/jamaophthalmol.2022.4688.

The study included 1,103 genotyped participants from the Progression Risk of Glaucoma: Relevant SNPs With Significant Association study.

Those in the top 5% polygenic risk score (PRS) group were found to have a faster rate of peripapillary retinal nerve fiber layer thinning and visual field worsening as compared with the remaining 95%, despite higher treatment intensity with drops, selective laser trabeculoplasty and/or trabeculectomy. Conversely, the bottom 20% PRS group had slower peripapillary retinal nerve fiber layer thinning and visual field worsening as compared with the intermediate 75% group.

“Both structural and functional glaucoma progression outcomes were influenced by glaucoma genetic risk,” the authors said.

Taking into account that in the top 5% group disease progression was slowed down by high-intensity treatment, the true association of PRS with glaucoma worsening could be even greater, they said.

These findings led to the conclusion that PRS may be a valuable adjunctive measure to identify patients with early or suspected glaucoma who need more frequent monitoring and may benefit from earlier or more intensive treatment, they said.