Investigating the genetics of cone dystrophy

Dr Cristina Martinez Fernandez, John Radcliffe Hospital, Oxford -£24,700

Cone dystrophy is often caused by genetic mutations on a single gene, RPGR (Retinitis pigmentosa GTPase regulator), leading to the loss of central vision by affecting the cone photoreceptors across the retina and around the macula. This condition can significantly impact a person’s ability to perceive color and detail, particularly in bright light conditions.

What is the problem?

Cones are photoreceptors that enable us to see in colour, whereas rods enable us to see in low light conditions. Both are found in the macula but cones are hardly found outside this area. This is why damage to the macula has such a profound effect on seeing colour.

Earlier work has shown that mutations along most of the RPGR gene affect both rods and cones, whilst mutations located at the very end of the gene affect cones only.

What are they doing?

This work will be looking at the mutations affecting just cones. The ultimate goal is to develop an effective gene therapy that corrects the mutation and slows or even halts the disease progression.

How can this help?

There are several gene therapy clinical trials working to deliver a functioning RPGR gene for people with Retinitis pigmentosa and it will be useful to know if using this same approach might work for people with cone dystrophies.