Diagnosis of Usher syndrome usually includes an evaluation of sight, hearing and balance. Evaluation of the eyes may include a visual field test to measure a person's peripheral vision, an electroretinogram (ERG) to measure the electrical response of the eye's light-sensitive cells, and a retinal examination to observe the retina and other structures in the back of the eye.

A hearing (audiologic) evaluation measures how loud sounds at a range of frequencies need to be before a person can hear them.

An electronystagmogram (ENG) measures involuntary eye movements that could signify a balance problem.

Early diagnosis of Usher syndrome is very important so that the right support can be identified.

Treatment

There is currently no cure for Usher syndrome, and no treatments that will slow down, stop or reverse damage to sight and hearing, but research and knowledge of the genetics of Usher is developing all the time.   

Early intervention

The best treatment is early identification of Usher so that the right individual support can be identified. The support is likely to cover:

• Emotional support
• Education and learning
• Orientation and mobility
• Communication
• One-to-one support
• Hearing and vision aids
• Assistive technology

Lifestyle

The way we choose to live our lives affects our health and wellbeing. There are a number of things we can all do to protect our sight and hearing.

The RNIB website has more information about looking after your eyes, particularly regular sight tests, smoking, diet, sunglasses and safety.

Action on Hearing Loss has more information on looking after your hearing.

Future treatments

Retinal implants – a number of scientists around the world are developing retinal implants that work in a similar way to cochlear implants. A small camera mounted on glasses sends a signal to an implant mounted on the retina.

Drug therapy – clinical trials are taking place that explore how drugs and growth factors can promote the health and function of cells in the retina.

Gene therapy – research teams around the world are investigating techniques to correct the wide range of faulty genes that cause retinitis pigmentosa.

Stem cell therapy – retinal stem cell therapy aims to use the stem cells to replace damaged retinal cells within the eye. There are still a lot of basic science questions to be answered before human clinical trials can start.