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A groundbreaking study has demonstrated that polygenic risk scores (PRSs) based on intraocular pressure (IOP) and vertical cup-disc ratio (VCDR) can significantly aid in predicting glaucoma risk. These findings suggest that genetic screening could revolutionize early detection and enable personalized treatment, even for individuals with normal IOP levels.
A study published in JAMA Ophthalmology has highlighted the potential of PRSs in enhancing early diagnosis of primary open-angle glaucoma. By utilizing genetic susceptibility markers related to IOP and VCDR, researchers have developed predictive models that could play a crucial role in preemptive eye care strategies.
Study Insights
Researchers analyzed data from the Canadian Longitudinal Study on Aging (CLSA) and the Busselton Healthy Aging Study (BHAS), covering nearly 12,000 participants. To validate their findings, they compared the results with data from the UK Biobank.
Key results showed that:
- The VCDR PRS accounted for 22% and 19.7% of the variance in VCDR measurements in the CLSA and BHAS cohorts, respectively.
- The IOP PRS explained 12.9% and 9.6% of the variance in IOP within these populations.
The study also identified differences in PRS performance among various populations. Among South Asian individuals, the VCDR PRS explained up to 14.3% of the variance, while the IOP PRS accounted for 7.5%. These variations emphasize the importance of developing population-specific genetic risk models to improve glaucoma prediction and management.
Clinical Implications
These findings underscore the relevance of genetic risk assessments in clinical settings. With the ability to identify individuals at heightened risk of glaucoma before conventional symptoms emerge, PRS-based screening could become an invaluable tool for ophthalmologists. This approach may lead to more proactive disease management, improved monitoring strategies, and tailored treatment plans.
Conclusion
As genetic research continues to evolve, the integration of PRSs into routine ophthalmic care could significantly alter the landscape of glaucoma detection and treatment. Future studies will be essential to refine these models and establish standardized screening protocols for diverse populations.
Disclaimer: The information in this article is based on research findings and should not be considered a substitute for professional medical advice. Patients concerned about their glaucoma risk should consult a qualified healthcare provider.
(Source: https://jamanetwork.com/journals/jamaophthalmology/article-abstract/2826518)
