Abstract
Animal and Cellular Models of the Eye Disorder, Microphthalmia (Small Eye) Microphthalmia, meaning a small, underdeveloped eye, is a rare disorder that children are born with. Genetic changes or variations in the environment during the first 3 months of pregnancy can disrupt early development of the eye, resulting in microphthalmia. Up to 11% of blind children have microphthalmia, yet currently no treatments are available. By understanding the genes necessary for eye development, we can determine how disruption by genetic changes or environmental factors can cause this condition. This helps us understand why microphthalmia occurs, and ensure patients are provided with the appropriate clinical care and genetic counselling advice. Additionally, by understanding the causes of microphthalmia, researchers can develop treatments to prevent or reduce the severity of this condition. Animal models, particularly mice, zebrafish and frogs, which can also develop small eyes due to the same genetic/environmental changes, have helped us understand the genes which are important for eye development and can cause birth eye defects when disrupted. Studying a patient's own cells grown in the laboratory can further help researchers understand how changes in genes affect their function. Both animal and cellular models can be used to develop and test new drugs, which could provide treatment options for patients living with microphthalmia. This review summarises the key discoveries from animal and cellular models of microphthalmia and discusses how innovative new models can be used to further our understanding in the future.
Highlights
Microphthalmia describes a small underdeveloped eye and is defined as having a total axial length of
The most common mutations associated with microphthalmia are in transcription factors that control correct gene expression during early eye development, such as SOX2 and OTX2 which account for 60% of severe bilateral microphthalmia,[9] along with RAX, VSX2 and PAX6.2,3 These transcription factors regulate signalling pathways (e.g. WNT, BMP, TGFβ and SHH) which stimulate morphogenic movements and specialisation of cells within the developing eye
Through work studying patients, animals and cellular models, considerable progress has been made in understanding the genetic basis of eye development, and how dysregulation of molecular pathways can result in microphthalmia
Summary
Microphthalmia describes a small underdeveloped eye and is defined as having a total axial length of
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