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Future directions in managing aniridia-associated keratopathy

van Velthoven, Arianne JH; Utheim, Tor P; Notara, Maria; Bremond-Gignac, Dominique; Figueiredo, Francisco C; Skottman, Heli; Aberdam, Daniel; ... Dickman, Mor M; + view all (2023) Future directions in managing aniridia-associated keratopathy. Survey of Ophthalmology 10.1016/j.survophthal.2023.04.003. (In press). Green open access

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Abstract

Congenital aniridia is a panocular disorder that is typically characterized by iris hypoplasia and aniridia-associated keratopathy (AAK). AAK results in the progressive loss of corneal transparency and thereby loss of vision. Currently, there is no approved therapy to delay or prevent its progression, and clinical management is challenging because of phenotypic variability and high risk of complications after interventions; however, new insights into the molecular pathogenesis of AAK may help improve its management. Here, we review the current understanding about the pathogenesis and management of AAK. We highlight the biological mechanisms involved in AAK development with the aim to develop future treatment options, including surgical, pharmacological, cell therapies, and gene therapies.

Type: Article
Title: Future directions in managing aniridia-associated keratopathy
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.survophthal.2023.04.003
Publisher version: https://doi.org/10.1016/j.survophthal.2023.04.003
Language: English
Additional information: © 2023 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Aniridia, PAX6, aniridia-associated keratopathy, cell therapy, gene therapy, keratopathy, pharmacological action, surgical procedures
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10171910
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