Understanding RPGR gene function in cone photoreceptors

Dr Roly Megaw, University of Edinburgh - £119,328 (co-funded with Retina UK)

Different mutations in the RPGR gene lead to quite different types of disease, affecting either the rod or cone photoreceptors, our light-sensing cells in the retina. This project aims to understand the function of the RPGR gene in photoreceptors, to understand why mutations lead to disease, and hopefully identify possible future treatment targets.

What is the problem?

Some mutations in the RPGR gene cause cone rod dystrophy, which affects cells in the macula and causes central vision loss. While other mutations in the RPGR gene cause retinitis pigmentosa, which affects the rod photoreceptors in the retina and leads to peripheral vision loss. We do not yet understand how mutations in the same gene can cause two very different retinal conditions, or why these mutations lead to vision loss.

What are they doing?

This research is looking at improving understanding of RPGR function in cone photoreceptors. The team will investigate how the RPGR gene is involved in a key aspect of vision, how the function is affected by gene mutations and how it interacts with other genes also required for healthy vision. 

How can this help?

The more we know about genes involved in vision loss, the better. By understanding more about how the RPGR gene functions, and what happens when the gene is mutated, we can hopefully find targets to treat the condition and maintain vision.