Analysis of <i>CYP1B1</i> in pediatric and adult glaucoma and other ocular phenotypes.

Abstract

In summary, these data expand the mutational and phenotypic spectra of <i>CYP1B1</i> to include two novel alleles and additional developmental ocular phenotypes. The contribution of <i>CYP1B1</i> to POAG is less clear, but loss-of-function variants in <i>CYP1B1</i>, especially c.1064_1076del, p.(Arg355Hisfs*69), may be associated with an increased risk for POAG.