Sekimitsu Sayuri

Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.

Results suggest that PRS identified a group of individuals at substantially higher risk for POAG.

Racial Disparities in Glaucoma Vision Outcomes and Eye Care Utilization: An IRIS Registry Analysis.

We found that significant disparities in US eye care exist with Black, Hispanic, and Native American patients having worse vision outcomes and less disease monitoring.

Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.

One in 4 individuals with the MYOC p.Gln368Ter mutation demonstrated evidence of glaucoma, a substantially higher penetrance than previously estimated, with 69% of cases undetected.

Glaucoma and Machine Learning: A Call for Increased Diversity in Data.

Primary Open-Angle Glaucoma Polygenic Risk Score and Risk of Disease Onset: A Post Hoc Analysis of a Randomized Clinical Trial.

These findings support considering use of a POAG PRS threshold to identify individuals at low risk of disease onset, with those below the PRS threshold more likely to have lower conversion rates over 20 years.

Genetic Risk for Open-Angle Glaucoma Subtypes Is Associated with Specific Visual Field Defect Classes.

Higher POAG PRSs and NTG PRSs were associated with paracentral VF loss, whereas higher HTG GRS was linked to total VF loss, but not paracentral defects.