Understanding how genes control eye development 

Genetic information orchestrates how our bodies develop in the womb. Addressing the function of the genes that control organ development and growth is a fundamental goal in biology. 

This information is key to understanding how changes in these genes, called mutations, can cause abnormal organ development in the womb. 

Abnormal eye development occurs in 4 in 10,000 births and it can cause anophthalmia (A, no eyes) or microphthalmia (M, abnormally small eyes). These conditions can affect one or both eyes and there is currently no treatment.

Management of these conditions focuses on preserving and maximising any existing vision and enhancing cosmetic appearance. This has a profound life-long impact on both patient and their family.

There are over 100 genes with mutations currently linked to abnormal eye development but only 10% of children born with A/M receive a genetic diagnosis. 

This means that there is still a number of A/M-causing gene mutations that are currently unknown. 

Researchers also suspect that errors in more than one gene may have to occur simultaneously to result in A/M phenotype. It is therefore important to understand how these genes interact to compensate for and mask developmental defects. 

These gaps in knowledge limit the capacity to generate effective therapies and interventions that could help prevent A/M.

Human and zebrafish eye development are comparable, using a similar pool of genes. 

Therefore, studying how eyes develop in fish could help understand this process in humans. 

To find which genes with known links to A/M impact eye development in zebrafish, Dr Young and team will perform a novel genetic modifier screening test. They plan to silence groups of genes and measure what effect this has on zebrafish eye development and function. 

This allows the researchers to understand how genes work together and can compensate for certain mutations. 

This test can help researchers to further dissect what errors need to occur in multiple key genes simultaneously to result in eye developmental abnormalities and predict the severity of these defects.

The expression and function of genes involved in eye development and how A/M phenotype occurs, is poorly understood.

This research could advance the understanding of the role of these genes in eye development and how disruption of these genes can result in eye defects.

This could help provide better support for children living with A/M, their families and doctors through more accurate and better-informed genetic counselling.