Tackling the cause of sight loss in Usher syndrome

28 June 16

written by:

Ade Deane-Pratt

(more articles)

Spotlight on retinitis pigmentosa during Deafblind Awareness Week 2016

Debbie sitting down, looking away from the camera and wearing pink and black.
Debbie White

This week is Deafblind Awareness Week. The most common genetic cause of sight loss combined with hearing loss is Usher syndrome. It’s thought that around 10,000 people in the UK have Usher syndrome, including amazing Fight for Sight supporter Debbie White.

Sight loss in Usher syndrome is due to retinitis pigmentosa, a condition that affects the light-sensitive layers of cells at the back of the eye (the retina). About 2 in 10 people with retinitis pigmentosa have Usher.

When sight loss begins, how fast it progresses and how severe it will become all depend on which type of Usher syndrome it is. There are 3 main types of Usher, but at least a dozen genes are known to cause the condition, which can also affect people’s ability to balance, as well as their hearing.

Testing for Usher syndrome genes

As part of our £0.5 million REGARD programme to build better care services for people with inherited retinal conditions, Fight for Sight researchers have developed a genetic test for inherited eye disorders. The test looks for faults in 180 genes known to cause a range of conditions, and includes all the known Usher syndrome genes.

Professor Graeme Black from the Centre for Genomic Medicine at the University of Manchester is leading REGARD. The aim is to develop a clear, patient-led model of care services for people with Usher syndrome and other inherited retinal conditions. Part of that is making sure that people can get a specific diagnosis by testing to find the causative gene. This means that families can get the right counselling to help them think about the future.

It’s also the starting point for developing personalised treatments that target specific genes. There is currently no treatment for retinitis pigmentosa but Professor Black is working on it in collaboration with scientists at other key genetic research centres, through the RP Genome Project which we are co-funding together with RP Fighting Blindness.

Technology, cooperation and patients' voices

Dr Dolores M Conroy is Fight for Sight's Director of Research. She said:

“The UK Inherited Retinal Dystrophy Genome Project, to give it its full name, and the REGARD programme are both excellent examples of how new genetic technology, cooperation and information-sharing between research centres and input from patients on what they want and need can come together to drive research forward. We want to be able to halt the sight loss that affects Debbie White and ideally even reverse it. Treatments are starting to emerge for some of these conditions so there is real hope.”

Watch Debbie and her brother Adrian tell their story about living with Usher syndrome type II.

Find out more about our retinitis pigmentosa research and the RP Genome Project.