Mitchell Paul

Association of Genetic Variation With Keratoconus.

In this relatively large keratoconus genome-wide association study, we identified a genome-wide significant locus for keratoconus in the region of PNPLA2 on chromosome 11.

A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation.

The PRSs for open-angle glaucoma, IOP, and VCDR stratify risk of glaucoma development and disease severity among individuals with PEX.

Fifteen-Year Incidence of Open-Angle Glaucoma: The Blue Mountains Eye Study.

This study documented the 15-year incidence of OAG and associated risk factors in an older Australian population.

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma.

This study demonstrated that female sex is a risk factor for developing advanced NTG.

Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study.

This study shows that previously reported genetic variations related to OAG and cup-to-disc ratio are associated with the onset of OAG and thus may become useful in risk prediction algorithms designed to target early treatment…

Presence of an optic disc notch and glaucoma.

A notch in the neural rim is a relatively infrequent sign in normal eyes but is very frequent in glaucoma. This sign has both good sensitivity and a positive predictive value for glaucoma.