This website uses cookies to help us give you the best browsing experience. By continuing to use this portal, you agree to our use of this tool.
To learn more about how we use cookies and how to manage them please read our notice here.
Journal Club
Clinical Paper of the Month - Aniridia and Axenfeld-Rieger Syndrome: Clinical Presentations, Molecular Genetics and Current/Emerging Therapies
Aniridia and Axenfeld-Rieger Syndrome: Clinical Presentations, Molecular Genetics and Current/Emerging Therapies

Publishing date: February 2020

Author(s): Paul W Chrystal (1), Michael A Walter (2)

1 Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
2 Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. Electronic address: mwalter@ualberta.ca.

Aniridia and Axenfeld-Rieger Syndrome are related, human ocular disorders that are typically inherited in an autosomal dominant manner. Both result from incorrect development of the eye and have, as their most serious consequences, elevated risk to develop the blinding condition glaucoma. This review will focus on describing the clinical presentations of Aniridia and Axenfeld-Rieger Syndrome as well as the molecular genetics and current and emerging therapies used to treat patients.

Crown Copyright © 2019. Published by Elsevier Ltd. All rights reserved

Exp Eye Res, 189, 107815 Dec 2019

http://www.ncbi.nlm.nih.gov/pubmed/31560925


Keywords: Anterior segment, Inherited, Transcription factors, Treatment



Clinical Paper of the Month manager: Andreas Boehm




back to top

X