Future directions in managing aniridia-associated keratopathy
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Surv Ophthalmol. 2023 Sep-Oct;68(5):940-956. doi: 10.1016/j.survophthal.2023.04.003. Epub 2023 May 4. PMID: 37146692.

Future directions in managing aniridia-associated keratopathy

Authors: Arianne J H van Velthoven 1Tor P Utheim 2Maria Notara 3Dominique Bremond-Gignac 4Francisco C Figueiredo 5Heli Skottman 6Daniel Aberdam 7Julie T Daniels 8Giulio Ferrari 9Christina Grupcheva 10Carina Koppen 11Mohit Parekh 12Thomas Ritter 13Vito Romano 14Stefano Ferrari 15Claus Cursiefen 16Neil Lagali 17Vanessa L S LaPointe 18Mor M Dickman 1

Affiliation:

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

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.

Download: https://www.sciencedirect.com/science/article/pii/S0039625723000668