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Abstract #82496 Published in IGR 20-4

Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies

Chrystal PW; Walter MA
Experimental Eye Research 2019; 189: 107815


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.

Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.

Full article

Classification:

9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.5 Molecular biology incl. SiRNA (Part of: 3 Laboratory methods)



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