Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes
Chromosomes, Human, Pair 22
Scavenger Receptors, Class F
In summary, these data expand the mutational and phenotypic spectra of CYP1B1 to include two novel alleles and additional developmental ocular phenotypes. The contribution of CYP1B1 to POAG is less clear, but loss-of-function variants in CYP1B1, especially c.1064_1076del, p.(Arg355Hisfs*69), may be associated with an increased risk for POAG.