Future directions in managing aniridia-associated keratopathy

Arianne J.H. van Velthoven; Tor P. Utheim; Maria Notara; Dominique Bremond-Gignac; Francisco C. Figueiredo; Heli Skottman; Daniel Aberdam; Julie T. Daniels; Giulio Ferrari; Christina Grupcheva; Carina Koppen; Mohit Parekh; Thomas Ritter; Vito Romano; Stefano Ferrari; Claus Cursiefen; Neil Lagali; Vanessa L.S. LaPointe; Mor M. Dickman

doi:10.1016/j.survophthal.2023.04.003

Future directions in managing aniridia-associated keratopathy

Arianne J.H. van Velthoven
, Tor P. Utheim
, Maria Notara
, Dominique Bremond-Gignac
, Francisco C. Figueiredo
, Heli Skottman
, Daniel Aberdam
, Julie T. Daniels
, Giulio Ferrari
, Christina Grupcheva
, Carina Koppen
, Mohit Parekh
, Thomas Ritter
, Vito Romano
, Stefano Ferrari^*
, Claus Cursiefen
, Neil Lagali
, Vanessa L.S. LaPointe
, Mor M. Dickman

^*Tämän työn vastaava kirjoittaja

Tutkimustuotos: Katsausartikkeli › vertaisarvioitu

28 Sitaatiot (Scopus)

32 Lataukset (Pure)

Abstrakti

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.

Alkuperäiskieli	Englanti
Sivut	940-956
Sivumäärä	17
Julkaisu	Survey of Ophthalmology
Vuosikerta	68
Numero	5
DOI - pysyväislinkit	https://doi.org/10.1016/j.survophthal.2023.04.003
Tila	Julkaistu - 2023
OKM-julkaisutyyppi	A2 Katsausartikkeli tieteellisessä aikakauslehdessä

Rahoitus

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. 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.

Julkaisufoorumi-taso

Jufo-taso 1

!!ASJC Scopus subject areas

Ophthalmology

Pääsy asiakirjaan

10.1016/j.survophthal.2023.04.003Lisenssi: CC BY

1-s2.0-S0039625723000668-mainFinal published version, 6,36 MBLisenssi: CC BY

https://urn.fi/URN:NBN:fi:tuni-202309128105Lisenssi: CC BY

Siteeraa tätä

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. (2023). Future directions in managing aniridia-associated keratopathy. Survey of Ophthalmology, 68(5), 940-956. https://doi.org/10.1016/j.survophthal.2023.04.003

@article{e12b17247dcd4511a584fbadbd2be1e1,

title = "Future directions in managing aniridia-associated keratopathy",

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.",

keywords = "Aniridia, Aniridia-associated keratopathy, Cell therapy, Gene therapy, Keratopathy, PAX6, Pharmacological action, Surgical procedures",

author = "\{van Velthoven\}, \{Arianne J.H.\} and Utheim, \{Tor P.\} and Maria Notara and Dominique Bremond-Gignac and Figueiredo, \{Francisco C.\} and Heli Skottman and Daniel Aberdam and Daniels, \{Julie T.\} and Giulio Ferrari and Christina Grupcheva and Carina Koppen and Mohit Parekh and Thomas Ritter and Vito Romano and Stefano Ferrari and Claus Cursiefen and Neil Lagali and LaPointe, \{Vanessa L.S.\} and Dickman, \{Mor M.\}",

note = "Funding Information: This work was supported by the European Union{\textquoteright}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{\textquoteright}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: {\textcopyright} 2023 The Author(s)",

year = "2023",

doi = "10.1016/j.survophthal.2023.04.003",

language = "English",

volume = "68",

pages = "940--956",

journal = "Survey of Ophthalmology",

issn = "0039-6257",

publisher = "Elsevier",

number = "5",

}

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 2023, 'Future directions in managing aniridia-associated keratopathy', Survey of Ophthalmology, Vuosikerta 68, Nro 5, Sivut 940-956. https://doi.org/10.1016/j.survophthal.2023.04.003

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

Y1 - 2023

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 - Review Article

C2 - 37146692

AN - SCOPUS:85162261171

SN - 0039-6257

VL - 68

SP - 940

EP - 956

JO - Survey of Ophthalmology

JF - Survey of Ophthalmology

IS - 5

ER -

Future directions in managing aniridia-associated keratopathy

Abstrakti

Rahoitus

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!!ASJC Scopus subject areas

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