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Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.
Zebardast Nazlee, Sekimitsu Sayuri, Wang Jiali, Elze Tobias, Gharahkhani Puya, Cole Brian S et al.
OphthalmologyMar 202131 citationsCross-Sectional Study
This study found 25% of MYOC p.Gln368Ter carriers had glaucoma, often undiagnosed and with normal IOP. Polygenic risk scores increased penetrance and severity, highlighting their utility for risk stratification.