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

Surv Ophthalmol. 2023 Sep-Oct;68(5):940-956. doi: 10.1016/j.survophthal.2023.04.003. Epub 2023 May 4.

Authors

Arianne J H van Velthoven¹, Tor P Utheim², Maria Notara³, Dominique Bremond-Gignac⁴, Francisco C Figueiredo⁵, Heli Skottman⁶, Daniel Aberdam⁷, Julie T Daniels⁸, Giulio Ferrari⁹, Christina Grupcheva¹⁰, Carina Koppen¹¹, Mohit Parekh¹², Thomas Ritter¹³, Vito Romano¹⁴, Stefano Ferrari¹⁵, Claus Cursiefen¹⁶, Neil Lagali¹⁷, Vanessa L S LaPointe¹⁸, Mor M Dickman¹

Affiliations

¹ MERLN Institute for Technology-Inspired Regenerative Medicine, Maastricht University, Maastricht, the Netherlands; University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, the Netherlands.
² Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.
³ Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
⁴ Ophthalmology Department, University Hospital Necker-Enfants Malades, APHP, Paris Cité University, Paris, France; Centre de Recherche des Cordeliers, Sorbonne Paris Cité University, Paris, France.
⁵ Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.
⁶ Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
⁷ Centre de Recherche des Cordeliers, Sorbonne Paris Cité University, Paris, France.
⁸ UCL Institute of Ophthalmology, London, UK.
⁹ Cornea and Ocular Surface Unit, Eye Repair Lab, San Raffaele Hospital, Milan, Italy.
¹⁰ Department of Ophthalmology and Visual Sciences, Medical University of Varna, Varna, Bulgaria.
¹¹ Department of Ophthalmology, Antwerp University Hospital, Edegem, Belgium.
¹² Schepens Eye Research Institute, Harvard Medical School, Boston, MA, USA.
¹³ Regenerative Medicine Institute, University of Galway, Galway, Ireland.
¹⁴ Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, Ophthalmology Clinic, University of Brescia, Brescia, Italy.
¹⁵ Fondazione Banca degli Occhi del Veneto, Venice, Italy. Electronic address: stefano.ferrari@fbov.it.
¹⁶ Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
¹⁷ Division of Ophthalmology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
¹⁸ MERLN Institute for Technology-Inspired Regenerative Medicine, Maastricht University, Maastricht, the Netherlands.

PMID: 37146692
DOI: 10.1016/j.survophthal.2023.04.003

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.

Publication types

Review

MeSH terms

Aniridia* / complications
Aniridia* / genetics
Aniridia* / therapy
Cornea / pathology
Corneal Diseases* / etiology
Corneal Diseases* / therapy
Forecasting
Humans
Vision Disorders

Abstract

Publication types

MeSH terms

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