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

Andrea Vincent, Gail Billingsley, Megan Priston, Thomas M Glaser, Edward Oliver, Mike Walter, Robert Ritch, Alex Levin, Elise Héon

Research output: Contribution to journalArticle

39 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)506-510
Number of pages5
JournalMolecular Vision
Volume12
StatePublished - May 16 2006
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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    Vincent, A., Billingsley, G., Priston, M., Glaser, T. M., Oliver, E., Walter, M., Ritch, R., Levin, A., & Héon, E. (2006). Further support of the role of CYP1B1 in patients with Peters anomaly. Molecular Vision, 12, 506-510.