Risk stratification and clinical utility of polygenic risk scores in ophthalmology

Ayub Qassim, Emmanuelle Souzeau, Georgie Hollitt, Mark M. Hassall, Owen M. Siggs, Jamie E. Craig

Research output: Contribution to journalReview articlepeer-review

2 Citations (Scopus)
1 Downloads (Pure)


Combining genetic and clinical data into an informative risk prediction profile has been an important ambition of personalized medicine. Single-nucleotide polymor-phisms are commonly found throughout the genome and account for the majority of interindividual genetic variation. To date, genome-wide association studies have led to the discovery of thousands of disease-associated loci, including across dozens of ophthalmic diseases and traits. However, compared with the clinical utility of identify-ing rare Mendelian variants, the translation of these results to clinical practice has so far been limited because such variants are found commonly in the population, and individ-ually account for a very small risk. Recently, combining large numbers of these genetic variants into polygenic risk scores (PRS) has shown clinically meaningful risk prediction across several common diseases. PRS have the potential to translate the discovery of common risk variants into individualized disease risk prediction, prognostication, and may enable targeted treatments. In this context, we review the clinical utility of PRS in three common, genetically complex ophthalmic conditions: primary open angle glaucoma, age-related macular degeneration, and myopia. Translational Relevance: Common genetic variants can be used to effectively stratify the risk of disease development and progression and may be used to guide screening, triaging, monitoring, or treatment thresholds.

Original languageEnglish
Article number14
Number of pages14
JournalTranslational Vision Science and Technology
Issue number6
Publication statusPublished - May 2021


  • Common complex disease
  • GWAS
  • Polygenic risk scores
  • Risk prediction


Dive into the research topics of 'Risk stratification and clinical utility of polygenic risk scores in ophthalmology'. Together they form a unique fingerprint.

Cite this