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Abstract #14286 Published in IGR 8-3
Further support of the role of CYP1B1 in patients with Peters anomaly
Vincent A; Billingsley G; Priston M; Glaser T; Oliver E; Walter M; Ritch R; Levin A; Heon EMolecular Vision 2006; 12: 506-510
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.
Dr. E. Heon, The Hospital for Sick Children, Department of Ophthalmology and Vision Sciences, 555 University Avenue, Toronto, Ont. M5G 1X8, Canada
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
