Future directions in managing aniridia-associated keratopathy
van Velthoven, Arianne J.H. Utheim, Tor P. Notara, Maria Bremond-Gignac, Dominique Figueiredo, Francisco C. Skottman, Heli Aberdam, Daniel Daniels, Julie T. Ferrari, Giulio Grupcheva, Christina
van Velthoven, Arianne J.H.
Utheim, Tor P.
Notara, Maria
Bremond-Gignac, Dominique
Figueiredo, Francisco C.
Skottman, Heli
Aberdam, Daniel
Daniels, Julie T.
Ferrari, Giulio
Grupcheva, Christina
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Publication Date
2023-05-04
Type
Article
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Citation
van Velthoven, Arianne J.H., Utheim, Tor P., Notara, Maria, Bremond-Gignac, Dominique, Figueiredo, Francisco C., Skottman, Heli, Aberdam, Daniel, Daniels, Julie T., Ferrari, Giulio, Grupcheva, Christina, Koppen, Carina, Parekh, Mohit, Ritter, Thomas, Romano, Vito, Ferrari, Stefano, Cursiefen, Claus, Lagali, Neil, LaPointe, Vanessa L.S., Dickman, Mor M. (2023). Future directions in managing aniridia-associated keratopathy. Survey of Ophthalmology, 68(5), 940-956. doi:https://doi.org/10.1016/j.survophthal.2023.04.003
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.
Publisher
Elsevier
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Attribution 4.0 International (CC BY 4.0)