University Of Tasmania
99274 Journal Article.pdf (152.95 kB)

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

Download (152.95 kB)
journal contribution
posted on 2023-05-18, 08:35 authored by Souzeau, E, Hayes, M, Ruddle, JB, Elder, JE, Staffieri, SE, Kearns, LS, David MackeyDavid Mackey, Zhou, T, Ridge, B, Kathryn BurdonKathryn Burdon, Dubowsky, A, Craig, JE

Purpose: To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New Zealand Registry of Advanced Glaucoma.

Methods: In total, 50 PCG cases either heterozygous for disease-causing variants or with no CYP1B1 sequence variants were included in the study. CYP1B1 CNV was analyzed by Multiplex Ligation-dependent Probe Amplification (MLPA).

Results: No deletions or duplications were found in any of the cases.

Conclusion: This is the first study to report on CYP1B1 CNV in PCG cases. Our findings show that this mechanism is not a major contributor to the phenotype and is of limited diagnostic utility.


Publication title

Molecular Vision








Menzies Institute for Medical Research


Molecular Vision

Place of publication

C/O Jeff Boatright, Lab B, 5500 Emory Eye Center, 1327 Clifton Rd, N E, Atlanta, USA, Ga, 30322

Rights statement

Copyright 2015 The Authors-this work is distributed under the terms of a Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0 (CC BY-NC-ND 3.0 AU).

Repository Status

  • Open

Socio-economic Objectives

Clinical health not elsewhere classified

Usage metrics

    University Of Tasmania