{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:37:10Z","timestamp":1786649830877,"version":"build-2736575974"},"reference-count":98,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic toggle=\"yes\">PAX6<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.4103\/ijo.ijo_316_22","type":"journal-article","created":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T08:53:31Z","timestamp":1670316811000},"page":"4119-4129","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":19,"title":["PAX6 disease models for aniridia"],"prefix":"10.4103","volume":"70","author":[{"given":"Dorsa","family":"Abdolkarimi","sequence":"first","affiliation":[{"name":"UCL Institute of Ophthalmology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dulce Lima","family":"Cunha","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, London, UK"},{"name":"Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Lahne1","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, London, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"},{"name":"The Francis Crick Institute, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,11,30]]},"reference":[{"key":"R1-20251006","article-title":"PAX6-Related Aniridia","author":"Moosajee","year":"2003","journal-title":"Gene Reviews"},{"key":"R2-20251006","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.exer.2016.04.017","article-title":"PAX6:25th anniversary and more to 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