What Is Microphthalmia?

Microphthalmia, a rare congenital disorder of children, results from impaired eye development due to genetic changes or environmental changes during the first trimester of pregnancy. It manifests clinically in infants with very small eyes in one or both eyes and may result in vision loss or blindness. It affects an estimated 1 in 7,000 live births, and there is currently no preventive or restorative treatment. By understanding the genes necessary for eye development, it is possible to determine how genetic changes or disruptions from environmental factors lead to the condition. This can help us understand why microphthalmia occurs and develop treatments to prevent or reduce the severity of the condition. In animal models, particularly zebrafish, genetic screens have uncovered many mutations that cause smaller eyes due to the same genetic/environmental changes. This provides researchers with significant information about genes that contribute to eye development. These genes can lead to congenital eye defects. In the long run, zebrafish may become a prime candidate gene source for studying microphthalmia.

Fig. 1. Wildtype and microphthalmic zebrafish at 76 h post fertilisation (hpf). (Harding P, et al., 2021)

Service Overview

The common molecular basis of eye development in humans and zebrafish means that the complex genetic networks underpinning microphthalmia can be resolved using transgenic/mutant zebrafish lines to determine gene function during eye development. Over the years, Ace Therapeutics has been committed to exploring the mutated genes associated with human microphthalmia. This allowed us to construct a stable zebrafish mutant line model to understand the etiology of microphthalmia and how eye development is disrupted.

Explore Ace Therapeutics' Zebrafish Models of Microphthalmia

Thanks to the comprehensive understanding of known human microphthalmia genes, Ace Therapeutics has successfully developed various zebrafish microphthalmia models. Our researchers induce genetic changes in the F0 generation showing a microphthalmia phenotype by injecting genome modification tools at the one-cell stage of zebrafish zygotes. Our strategies includes:

• The Injection of an antisense oligonucleotide morpholine to generate knockdown morphants, which is complementary to the mRNA of interest and leads to transient gene knockdown in the embryo for up to 5 days post fertilization (dpf).
• Injection of TALENs or CRISPR/Cas9 gene editing tools can be used to generate specific mutations and create stable microphthalmia mutant lines.

Importantly, our F0-generation microphthalmia phenotype induced by genome modification in zebrafish provides our customers with another powerful tool to examine the gene portfolio to decipher epistatic interactions and oligogenic inheritance, which is crucial for studying microphthalmia. Polygenic factors in pathogenesis have profound implications for pioneering therapeutic approaches.

Ace Therapeutics provides the following zebrafish microphthalmia models to customers around the world, including but not limited to:

Tab.1. Ace Therapeutics' zebrafish models of of microphthalmia.

Ace Therapeutics aims to provide a powerful analytical tool to help our global customers to study mechanisms and innovative therapeutic strategies associated with microphthalmia. If you are interested in our services or need more detailed information, please feel free to contact us. Our experienced scientists are ready to help you!

References

1. Harding P, Cunha DL, Moosajee M. Animal and cellular models of microphthalmia. Ther Adv Rare Dis. 2021 Feb 27;2:2633004021997447.
2. Richardson R, Tracey-White D, Webster A, et al. The zebrafish eye-a paradigm for investigating human ocular genetics. Eye (Lond). 2017 Jan;31(1):68-86.

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