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. 2023 Feb 2;12(3):495. doi: 10.3390/cells12030495

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© 2023 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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Approaches for the management of ocular defects in patients with EEC syndrome. There are a few therapeutic strategies that have been tested or are under progress for the treatment of the ocular defects in EEC syndrome: (i) gene therapy-based approaches by means of Allele-Specific (AS) siRNAs to correct the p63 mutations; (ii) cell therapy-based approaches to replenish the pool of limbal stem cells; and (iii) drug therapy to correct/bypass the genetic defect. Abbreviations: allo-LSCs: allogeneic Limbal Stem Cells; OMESCs: oral mucosa epithelial stem cells; iPSCs: Induced Pluripotent Stem Cells; MSCs: Mesenchymal Stem Cells; ABCB5: ATP Binding Cassette Subfamily B Member 5; DAPT: (N-[N-(3, 5-Difluorophenacetyl)-L-Alanyl]-S-Phenylglycine T-butyl ester); PRIMA-1MET: p53 reactivation and induction of massive apoptosis. Created with BioRender.com.