Role of CYP1B1Retinoid in Congenital Glaucoma

Project Summary

Some newborns and infants are affected by an especially severe form of glaucoma called Primary Congenital Glaucoma (PCG). PCG is caused by an abnormal development of the anterior chamber angle of the eye. In previous studies, Dr. Stoilov has found that this disease is caused by mutations in the gene for Cytochrome P4501B1 (CYPlBl). Humans have more than fifty different cytochrome P450 genes. They are responsible for the synthesis of various hormones and for detoxifying drugs, alcohol, and other chemicals. Based on the substrate specificity of CYPlBl, Dr. Stoilov hypothesizes that CYP1B1 affects a little-known retinoid signaling pathway operating during the later stages of eye development. Dr. Stoilov's goal is to identify the enzymes involved in the CYPlBl pathway and study their expression during the development of the anterior chamber angle of the eye.