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

37 Citations (Scopus)

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

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Glaucoma
Mutation
Genes
Peters anomaly

ASJC Scopus subject areas

  • Ophthalmology

Cite this

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

Further support of the role of CYP1B1 in patients with Peters anomaly. / Vincent, Andrea; Billingsley, Gail; Priston, Megan; Glaser, Thomas M; Oliver, Edward; Walter, Mike; Ritch, Robert; Levin, Alex; Héon, Elise.

In: Molecular Vision, Vol. 12, 16.05.2006, p. 506-510.

Research output: Contribution to journalArticle

Vincent, A, Billingsley, G, Priston, M, Glaser, TM, 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, vol. 12, pp. 506-510.
Vincent A, Billingsley G, Priston M, Glaser TM, Oliver E, Walter M et al. Further support of the role of CYP1B1 in patients with Peters anomaly. Molecular Vision. 2006 May 16;12:506-510.
Vincent, Andrea ; Billingsley, Gail ; Priston, Megan ; Glaser, Thomas M ; Oliver, Edward ; Walter, Mike ; Ritch, Robert ; Levin, Alex ; Héon, Elise. / Further support of the role of CYP1B1 in patients with Peters anomaly. In: Molecular Vision. 2006 ; Vol. 12. pp. 506-510.
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AU - Ritch, Robert

AU - Levin, Alex

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