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The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood

Jackson, D; Moosajee, M; (2023) The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood. Annual Review of Genomics and Human Genetics , 24 (1) pp. 177-202. 10.1146/annurev-genom-102722-090617. Green open access

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Abstract

The axial length of the eye is critical for normal visual function by enabling light to precisely focus on the retina. The mean axial length of the adult human eye is 23.5 mm, but the molecular mechanisms regulating ocular axial length remain poorly understood. Underdevelopment can lead to microphthalmia (defined as a small eye with an axial length of less than 19 mm at 1 year of age or less than 21 mm in adulthood) within the first trimester of pregnancy. However, continued overgrowth can lead to axial high myopia (an enlarged eye with an axial length of 26.5 mm or more) at any age. Both conditions show high genetic and phenotypic heterogeneity associated with significant visual morbidity worldwide. More than 90 genes can contribute to microphthalmia, and several hundred genes are associated with myopia, yet diagnostic yields are low. Crucially, the genetic pathways underpinning the specification of eye size are only now being discovered, with evidence suggesting that shared molecular pathways regulate under- or overgrowth of the eye. Improving our mechanistic understanding of axial length determination will help better inform us of genotype-phenotype correlations in both microphthalmia and myopia, dissect gene-environment interactions in myopia, and develop postnatal therapies that may influence overall eye growth.

Type: Article
Title: The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1146/annurev-genom-102722-090617
Publisher version: https://doi.org/10.1146/annurev-genom-102722-09061...
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: Axial length, high myopia, microphthalmia, Adult, Female, Pregnancy, Humans, Microphthalmos, Myopia, Gene-Environment Interaction, Multiple Birth Offspring, Pregnancy Trimester, First
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/10176174
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