Harding, P;
Moosajee, M;
(2019)
The Molecular Basis of Human Anophthalmia and Microphthalmia.
Journal of Developmental Biology
, 7
(3)
, Article 16. 10.3390/jdb7030016.
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Abstract
Human eye development is coordinated through an extensive network of genetic signalling pathways. Disruption of key regulatory genes in the early stages of eye development can result in aborted eye formation, resulting in an absent eye (anophthalmia) or a small underdeveloped eye (microphthalmia) phenotype. Anophthalmia and microphthalmia (AM) are part of the same clinical spectrum and have high genetic heterogeneity, with >90 identified associated genes. By understanding the roles of these genes in development, including their temporal expression, the phenotypic variation associated with AM can be better understood, improving diagnosis and management. This review describes the genetic and structural basis of eye development, focusing on the function of key genes known to be associated with AM. In addition, we highlight some promising avenues of research involving multiomic approaches and disease modelling with induced pluripotent stem cell (iPSC) technology, which will aid in developing novel therapies.
| Type: | Article |
|---|---|
| Title: | The Molecular Basis of Human Anophthalmia and Microphthalmia |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3390/jdb7030016 |
| Publisher version: | https://doi.org/10.3390/jdb7030016 |
| Language: | English |
| Additional information: | © 2019 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 (http://creativecommons.org/ licenses/by/4.0/). |
| Keywords: | OTX2, SOX2, anophthalmia, coloboma, development, eye, genes, genetics, induced pluripotent stem cells, microphthalmia |
| 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/10080278 |
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