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Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions

Latta, L; Figueiredo, FC; Ashery-Padan, R; Collinson, JM; Daniels, J; Ferrari, S; Szentmáry, N; ... Lagali, N; + view all (2021) Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions. The Ocular Surface , 22 pp. 245-266. 10.1016/j.jtos.2021.09.001. Green open access

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Abstract

Aniridia, a rare congenital disease, is often characterized by a progressive, pronounced limbal insufficiency and ocular surface pathology termed aniridia-associated keratopathy (AAK). Due to the characteristics of AAK and its bilateral nature, clinical management is challenging and complicated by the multiple coexisting ocular and systemic morbidities in aniridia. Although it is primarily assumed that AAK originates from a congenital limbal stem cell deficiency, in recent years AAK and its pathogenesis has been questioned in the light of new evidence and a refined understanding of ocular development and the biology of limbal stem cells (LSCs) and their niche. Here, by consolidating and comparing the latest clinical and preclinical evidence, we discuss key unanswered questions regarding ocular developmental aspects crucial to AAK. We also highlight hypotheses on the potential role of LSCs and the ocular surface microenvironment in AAK. The insights thus gained lead to a greater appreciation for the role of developmental and cellular processes in the emergence of AAK. They also highlight areas for future research to enable a deeper understanding of aniridia, and thereby the potential to develop new treatments for this rare but blinding ocular surface disease.

Type: Article
Title: Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jtos.2021.09.001
Publisher version: https://doi.org/10.1016/j.jtos.2021.09.001
Language: English
Additional information: © 2021 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: Aniridia-associated keratopathy (AAK), PAX6, Anterior chamber, Development, Limbal stem cells, (LSC), Aniridia, Aniridia animal and cellular models, Clinical research, Research strategies, Limbal niche
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10136338
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