Article
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Molecular vision - 1 Jan 2016
Reis Linda M, Tyler Rebecca C, Weh Eric, Hendee Kathryn E, Kariminejad Ariana, Abdul-Rahman Omar, Ben-Omran Tawfeg, Manning Melanie A, Yesilyurt Ahmet, McCarty Catherine A, Kitchner Terrie E, Costakos Deborah, Semina Elena V
Abstract excerpt
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.