Andrew John Lotery

This paper develops a polygenic risk score for glaucoma with improved performance across major ancestries, enabling earlier detection and targeted treatment of high-risk individuals.

The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

The paper shows that Zfp503 is essential for RPE differentiation and optic fissure closure, with loss of function leading to uveal coloboma and altered gene expression in developing mouse eyes.