Searching for more of the genes behind inherited central vision loss
- Type of funding: Fight for Sight Small Grant Award
- Grant Holder: Dr Stephanie Halford
- Institute: University of Oxford
- Region: South East
- Start date: January 2015
- End Date: February 2016
- Priority: Causes
- Eye Category: Inherited retinal
Cone dystrophy is an inherited cause of blindness. It’s named for photoreceptor cells called ‘cones’ in the retina at the back of the eye.
Photoreceptors detect light and turn it into electrical signals that get sent to the brain. Cones are used for seeing in colour and detail and the centre of vision.
People with cone dystrophy usually develop symptoms before the age of 20. Clear vision (visual acuity), sensitivity to light and colour vision all get worse with time and there is less electrical activity from the cones. Legal blindness generally happens by age 30.
Researchers have identified some of the genes linked to cone dystrophy but there are more to find. About 2 or 3 in 10 patients with cone dystrophy don’t have a specific genetic diagnosis.
The research team has identified a number of genes involved in photoreceptor function that haven’t been linked to the retina before. In this project they are screening people with cone dystrophy to see if they can find the fault given the new information.
Having a specific genetic diagnosis means that families can have better information to plan for the future. It’s also the first step towards developing a targeted treatment that might slow or stop sight loss.