Ocular Coloboma Introduction

The main cause of ocular colobomas is failure to close the optic fissure, which is characterized by a persistent optic fissure that may span the iris, ciliary body, zonules, retina, choroid, and optic nerve. Research shows. This ocular abnormality may be associated with mutations in genes such as PAX2, CHD7, SOX2, PAX6, GDF6, YAP1 OTX2, SHH, SIX3, FADD, MAF, ZFHX1B, RX, and multiple chromosomal aberrations, but the molecular mechanisms underpinning this situation remain to be elucidated. Therefore, a biological model to understand how these ocular structures develop and maintain is urgently needed. Theoretically, normal vision depends on factors such as genes that control apical-basal polarity. In fact, mutations in polarity genes have been linked to retinal degeneration in multiple species, including humans. The zebrafish, as a popular animal model, provides an excellent platform for explaining ocular development and maintenance. Mutations in genes responsible for human ocular colobomas in zebrafish orthologs will result in a range of observed retinal and lens defects.

Fig. 1. crb2b^e40 mutants are homozygous viable and develop normal eyes. (Kujawski S, et al., 2020)

Service Overview

The ocular coloboma is an eye disease associated with multiple gene mutations or chromosomal abnormalities accompanied by other congenital abnormalities of the eye. Most eye deformities genes lead to defects when individually disrupted. But in many cases, mutations in a single gene may not reveal any defects unless combined with other genetic mutations or environmental risk factors. In recent years, Ace Therapeutics has been working to identify these genetic interactions in zebrafish and the complex networks they involve through genome editing technology, so as to elucidate the molecular mechanism of eye coloboma diseases.

Explore Ace Therapeutics' Zebrafish Models of Ocular Coloboma

Ace Therapeutics provides a variety of ocular coloboma models to customers around the world, which provide an important tool for understanding optic fissure morphogenesis. Our researchers use genome editing technology to insert mutant genes into zebrafish to generate a series of zebrafish eye defect models with genetic mutations, such as the pax2a mutant homozygous mutant model, which exhibits defects in optic fissure closure and lacks the central nervous system, unable to eat and dies within 2 weeks.

What appeals to our clients is that our mutant zebrafish is a promising model for screening for drugs that inhibit the development of Peters anomaly and other anterior chamber hypoplasia phenotypes.

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

Tab.1. Ace Therapeutics' zebrafish mutant models of ocular coloboma.

Ace Therapeutics aims to provide a powerful analytical tool to help our global customers study blinding mechanisms and potential treatment strategies associated with ocular defects. 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. Richardson R, Tracey-White D, Webster A, et al. The zebrafish eye-a paradigm for investigating human ocular genetics. Eye (Lond). 2017, 31(1):68-86.
2. Kujawski S, Crespo C, Luz M, et al. Loss of Crb2b-lf leads to anterior segment defects in old zebrafish. Biol Open. 2020, 9(2):bio047555.

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