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.

Future directions in managing aniridia-associated keratopathy / van Velthoven, A. J. H.; Utheim, T. P.; Notara, M.; Bremond-Gignac, D.; Figueiredo, F. C.; Skottman, H.; Aberdam, D.; Daniels, J. T.; Ferrari, G.; Grupcheva, C.; Koppen, C.; Parekh, M.; Ritter, T.; Romano, V.; Ferrari, S.; Cursiefen, C.; Lagali, N.; Lapointe, V. L. S.; Dickman, M. M.. - In: SURVEY OF OPHTHALMOLOGY. - ISSN 0039-6257. - 68:5(2023), pp. 940-956. [10.1016/j.survophthal.2023.04.003]

Future directions in managing aniridia-associated keratopathy

Ferrari G.;Ferrari S.
;
2023-01-01

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.
2023
Aniridia
Aniridia-associated keratopathy
Cell therapy
Gene therapy
Keratopathy
PAX6
Pharmacological action
Surgical procedures
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/161298
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