Stone Edwin M

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.

Histochemical Analysis of Glaucoma Caused by a Myocilin Mutation in a Human Donor Eye.

This is the first histopathological analysis of an eye from a glaucoma patient with amutation.

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…

Familial Glaucoma-A Pedigree Revisited With Genetic Testing After 70 Years.

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.

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.