Roos Ben R

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.

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.

Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).

This study identifies a novel mutation, p.Tyr438Cys, as the first known glaucoma-causing EFEMP1 mutation in a JOAG pedigree of European ancestry.

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.