Exploring novel animal models for infantile nystagmus

Brief Lay background

Childhood nystagmus is a lifelong condition that causes involuntary movement of the eyes, usually from side to side. While the condition doesn’t lead to complete sight loss, affected children will often have reduced vision that can affect their quality of life.

What problem/knowledge gap does it help address

Current treatment options for children with nystagmus can only provide limited improvements in vision – and they don’t work for everyone. 

Establishing a relevant animal model of childhood nystagmus would provide researchers with an important tool to study how the condition develops – and accelerate the search for new treatments. 

Some forms of nystagmus are inherited – and faults in genes called TYR and FRMD7 have been identified as the cause of many of these cases. But mice with faults in either of these genes do not show a good resemblance to the human condition – and so there is a need to explore alternative animal models.

Aim of the project

To generate a new zebrafish model that closely resembles childhood nystagmus.

Key procedures/objectives

1. Use a cutting-edge technique to rapidly generate zebrafish with a faulty FRMD7 gene – and confirm the presence of the mutation through DNA sequencing.
2. Carry out a series of eye tests – including assessing a visual reflex called the optokinetic reflex (OKD) – to explore whether these engineered zebrafish recapitulate the major features of childhood nystagmus.

Potential impact on people with sight loss

This research could ultimately pave the way for the development of effective new treatments that can help improve vision for children with nystagmus, which would have a positive impact on their long-term quality of life.