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PAX6 disease models for aniridia

Abdolkarimi, D; Cunha, DL; Lahne, M; Moosajee, M; (2022) PAX6 disease models for aniridia. Indian journal of ophthalmology , 70 (12) pp. 4119-4129. 10.4103/ijo.IJO_316_22. Green open access

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Abstract

Aniridia is a pan-ocular genetic developmental eye disorder characterized by complete or partial iris and foveal hypoplasia, for which there is no treatment currently. Progressive sight loss can arise from cataracts, glaucoma, and aniridia-related keratopathy, which can be managed conservatively or through surgical intervention. The vast majority of patients harbor heterozygous mutations involving the PAX6 gene, which is considered the master transcription factor of early eye development. Over the past decades, several disease models have been investigated to gain a better understanding of the molecular pathophysiology, including several mouse and zebrafish strains and, more recently, human-induced pluripotent stem cells (hiPSCs) derived from aniridia patients. The latter provides a more faithful cellular system to study early human eye development. This review outlines the main aniridia-related animal and cellular models used to study aniridia and highlights the key discoveries that are bringing us closer to a therapy for patients.

Type: Article
Title: PAX6 disease models for aniridia
Location: India
Open access status: An open access version is available from UCL Discovery
DOI: 10.4103/ijo.IJO_316_22
Publisher version: http://doi.org/10.4103/ijo.IJO_316_22
Language: English
Additional information: This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution‑NonCommercial‑ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non‑commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
Keywords: Aniridia, hiPSC, LESC, PAX6, primary cells, retinal organoids, sey mouse, zebrafish
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/10162380
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