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

Lookup NU author(s): Professor Francisco FigueiredoORCiD, Professor Majlinda LakoORCiD



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


© 2021Aniridia, 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.

Publication metadata

Author(s): Latta L, Figueiredo FC, Ashery-Padan R, Collinson JM, Daniels J, Ferrari S, Szentmary N, Sola S, Shalom-Feuerstein R, Lako M, Xapelli S, Aberdam D, Lagali N

Publication type: Review

Publication status: Published

Journal: Ocular Surface

Year: 2021

Volume: 22

Pages: 245-266

Print publication date: 01/10/2021

Online publication date: 11/09/2021

Acceptance date: 08/09/2021

ISSN (print): 1542-0124

ISSN (electronic): 1937-5913

Publisher: Elsevier Inc.


DOI: 10.1016/j.jtos.2021.09.001