Aniridia and Axenfeld-Rieger Syndrome: Clinical Presentations, Molecular Genetics and Current/Emerging Therapies

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