Scheetz Todd E

Scheetz Todd E, Tollefson Mallory R, Roos Ben R, Boese Erin A, Pouw Andrew E, Stone Edwin M et al.

This study found pathogenic *METTL23* gene variants in ~1% of normal-tension glaucoma patients, suggesting its role in this glaucoma subtype and offering a potential genetic marker for diagnosis.

Boese Erin A, Drack Arlene V, Roos Benjamin R, Alward Wallace L M, Tollefson Mallory R, Schnieders Michael J et al.

This study found a specific GJA3 gene variant causes congenital cataracts and a very high risk of glaucoma after cataract surgery, especially if performed early. Prophylactic retinal endolaser may reduce detachment risk.

Boese Erin A, Alward Wallace L M, Kwon Young H, Roos Ben R, Stone Edwin M, Scheetz Todd E et al.

This study found THBS1 mutations are not a common cause of primary congenital glaucoma in a US population, suggesting they are a rare cause overall.

DeLuca Adam P, Alward Wallace L M, Liebmann Jeffrey, Ritch Robert, Kawase Kazuhide, Kwon Young H et al.

Researchers studied TBK1 gene duplications/triplications in glaucoma patients, finding varied CNV borders often within repetitive DNA, suggesting mismatched recombination as the cause. This clarifies the genetic basis of some glaucoma cases.

Scheetz Todd E, Faga Ben, Ortega Lizette, Roos Ben R, Gordon Mae O, Kass Michael A et al.

This study found that TMCO1 genetic risk alleles significantly increased glaucoma risk in non-Hispanic whites, comparable to clinical predictors like intraocular pressure.

Christopher Mark, Abràmoff Michael D, Tang Li, Gordon Mae O, Kass Michael A, Budenz Donald L et al.

3D optic nerve head shape, derived from stereo photos, significantly improved prediction of primary open-angle glaucoma development in ocular hypertension, suggesting utility for early screening and genetic studies.

Davis Lea K, Meyer Kacie J, Schindler Emily I, Beck John S, Rudd Danielle S, Grundstad A Jason et al.

This study found rare copy number variations (CNVs) in POAG patients, absent in controls, suggesting these genetic changes contribute to glaucoma development and may offer future diagnostic targets.

Tang Li, Scheetz Todd E, Mackey David A, Hewitt Alex W, Fingert John H, Kwon Young H et al.

This study found automated 3D optic nerve head shape measurements are highly heritable. This suggests genetic factors strongly influence ONH shape, potentially aiding glaucoma risk assessment and genetic research.