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The Molecular Basis of Human Anophthalmia and Microphthalmia

UCL Institute of Ophthalmology, London, EC1V 9EL, UK
Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK
Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK
Author to whom correspondence should be addressed.
J. Dev. Biol. 2019, 7(3), 16;
Received: 19 June 2019 / Revised: 8 August 2019 / Accepted: 8 August 2019 / Published: 14 August 2019
(This article belongs to the Special Issue Women in Developmental Biology)
PDF [1744 KB, uploaded 21 August 2019]


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. View Full-Text
Keywords: anophthalmia; microphthalmia; coloboma; eye; genetics; development; induced pluripotent stem cells; SOX2; OTX2; genes anophthalmia; microphthalmia; coloboma; eye; genetics; development; induced pluripotent stem cells; SOX2; OTX2; genes

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Harding, P.; Moosajee, M. The Molecular Basis of Human Anophthalmia and Microphthalmia. J. Dev. Biol. 2019, 7, 16.

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