Further support of the role of CYP1B1 in patients with Peters anomaly.

PURPOSE Peters anomaly is a developmental anomaly of the eye frequently associated with glaucoma. The aim of this study was to further define the molecular basis of this condition. METHODS The role of four candidate genes implicated in ocular development or glaucoma, PAX6, PITX2, MYOC, and CYP1B1, was studied in 15 patients with Peters anomaly. Mutational analysis used a combination of single strand conformation polymorphism (SSCP) and direct cycle sequencing. RESULTS Four mutations in CYP1B1 were found in 3/15 (20%) affected individuals compared with 1/140 (0.7%) control individuals. CONCLUSIONS This study supports the role of CYP1B1 as a causative gene in Peters anomaly. Furthermore, this emphasizes the broad range of phenotypic expression for CYP1B1 mutations, and its role in eye development.