Future directions in managing aniridia-associated keratopathy
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Date
2023-05-04Author
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.
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Recommended 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
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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.