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Future directions in managing aniridia-associated keratopathy

Lookup NU author(s): Professor Francisco FigueiredoORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Abstract

© 2023 The AuthorsCongenital 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.


Publication metadata

Author(s): van Velthoven AJH, Utheim TP, Notara M, Bremond-Gignac D, Figueiredo FC, Skottman H, Aberdam D, Daniels JT, Ferrari G, Grupcheva C, Koppen C, Parekh M, Ritter T, Romano V, Ferrari S, Cursiefen C, Lagali N, LaPointe VLS, Dickman MM

Publication type: Review

Publication status: Published

Journal: Survey of Ophthalmology

Year: 2023

Volume: 68

Issue: 5

Pages: 940-956

Print publication date: 11/08/2023

Online publication date: 04/05/2023

Acceptance date: 24/04/2023

ISSN (print): 0039-6257

ISSN (electronic): 1879-3304

Publisher: Elsevier Inc.

URL: https://doi.org/10.1016/j.survophthal.2023.04.003

DOI: 10.1016/j.survophthal.2023.04.003

PubMed id: 37146692


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