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Lookup NU author(s): Professor Francisco FigueiredoORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 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.
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
