Todd E. Scheetz

Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.

The size of the OHTS cohort and its composition of 2 large racial subgroups may limit its power to detect some glaucoma risk factors.

Myocilin Mutations in Patients With Normal-Tension Glaucoma.

In cohorts 1 and 2, the p.Gln368Ter mutation in MYOC was found in patients with IOPs that were 21 mm Hg or lower (NTG), although at a frequency that is lower than previously detected in patients with higher IOP.

GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.

The GJA3 genetic variant, p.Asp67Tyr, was identified in a 4-generation congenital cataract pedigree from Iowa.

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.

No specific mutation hotspots for TBK1 CNVs were detected, however, interspersed repetitive sequences (ie, Alu elements) were identified at the borders of TBK1 CNVs, which suggest that mismatch of these elements during meiosis may be…

Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.

METTL23 Variants and Patients With Normal-Tension Glaucoma.

This investigation provides evidence that pathogenic variants in METTL23 are associated with NTG.

Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa.

Myocilin mutations are the most common known cause of JOAG in populations of European ancestry.

Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population.

However, none of these variants were judged to be disease-causing mutations based on: 1) prevalence in cases and controls from Iowa, 2) prevalence in the public database gnomAD, 3) mutation analysis algorithms, and 4) THBS1 DNA sequence conservation.

Stereo Photo Measured ONH Shape Predicts Development of POAG in Subjects With Ocular Hypertension.

Methods for identifying objective, quantitative measurements of 3D ONH structure were developed using a large dataset.