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

Medicine

Research output: Contribution to a Journal (Peer & Non Peer) › Review article › peer-review

24 Citations (Scopus)

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.

Original language	English
Pages (from-to)	940-956
Number of pages	17
Journal	Survey of Ophthalmology
Volume	68
Issue number	5
DOIs	https://doi.org/10.1016/j.survophthal.2023.04.003
Publication status	Published - 1 Sep 2023

Keywords

Aniridia
Aniridia-associated keratopathy
Cell therapy
Gene therapy
Keratopathy
PAX6
Pharmacological action
Surgical procedures

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10.1016/j.survophthal.2023.04.003

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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

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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.\}",

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year = "2023",

month = sep,

day = "1",

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

language = "English",

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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, vol. 68, no. 5, pp. 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.

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

UR - https://www.scopus.com/pages/publications/85162261171

U2 - 10.1016/j.survophthal.2023.04.003

DO - 10.1016/j.survophthal.2023.04.003

M3 - Review article

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

Abstract

Keywords

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