TY - JOUR
T1 - Future directions in managing aniridia-associated keratopathy
AU - van Velthoven, Arianne J.H.
AU - Utheim, Tor P.
AU - Notara, Maria
AU - Bremond-Gignac, Dominique
AU - Figueiredo, Francisco C.
AU - Skottman, Heli
AU - Aberdam, Daniel
AU - Daniels, Julie T.
AU - Ferrari, Giulio
AU - Grupcheva, Christina
AU - Koppen, Carina
AU - Parekh, Mohit
AU - Ritter, Thomas
AU - Romano, Vito
AU - Ferrari, Stefano
AU - Cursiefen, Claus
AU - Lagali, Neil
AU - LaPointe, Vanessa L.S.
AU - Dickman, Mor M.
N1 - Funding Information:
This work was supported by the European Union’s Cooperation on Science and Technology (COST) Program, under COST Action CA-18116 ANIRIDIA-NET: “Aniridia: networking to address an unmet medical, scientific, and societal challenge; DFG German Research Council FOR 2240 (www.for2240.de) to C. C. and M. N.; the European Joint Programme on Rare Diseases (EJP RD 2020) to N. L., D. B. G., D. A. (AAK-INSIGHT); the Science Foundation Ireland Investigator Award (Grant 12/IA/1624 ), the European Regional Development Fund and the European Union’s Horizon 2020 Research and Innovation Programme (Grant 814439) to T. R.; Academy of Finland (Grant 338988 ) to H. S.; the Dutch Research Council ZonMw TOP (Grant 91217058 , VISION) to M. M. D., S. F. and V. L. S. L.
Funding Information:
This work was supported by the European Union's Cooperation on Science and Technology (COST) Program, under COST Action CA-18116 ANIRIDIA-NET: “Aniridia: networking to address an unmet medical, scientific, and societal challenge; DFG German Research Council FOR 2240 (www.for2240.de) to C. C. and M. N.; the European Joint Programme on Rare Diseases (EJP RD 2020) to N. L., D. B. G., D. A. (AAK-INSIGHT); the Science Foundation Ireland Investigator Award (Grant 12/IA/1624), the European Regional Development Fund and the European Union's Horizon 2020 Research and Innovation Programme (Grant 814439) to T. R.; Academy of Finland (Grant 338988) to H. S.; the Dutch Research Council ZonMw TOP (Grant 91217058, VISION) to M. M. D., S. F. and V. L. S. L.
Publisher Copyright:
© 2023 The Author(s)
PY - 2023/9/1
Y1 - 2023/9/1
N2 - 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.
AB - 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.
KW - Aniridia
KW - Aniridia-associated keratopathy
KW - Cell therapy
KW - Gene therapy
KW - Keratopathy
KW - PAX6
KW - Pharmacological action
KW - Surgical procedures
U2 - 10.1016/j.survophthal.2023.04.003
DO - 10.1016/j.survophthal.2023.04.003
M3 - (Systematic) Review article
C2 - 37146692
SN - 0039-6257
VL - 68
SP - 940
EP - 956
JO - Survey of Ophthalmology
JF - Survey of Ophthalmology
IS - 5
ER -