National Collaborative Usher Study

Deafness Research UK has helped to fund part of the National Collaborative Usher Study (NCUS), in conjunction with Sense and the British Retinitis Pigmentosa Society. The study was based in London at the Institute of Child Health (ICH), in Great Ormond Street Hospital and at the Institute of Ophthalmology, in Moorfields Eye Hospital.

[2004-2008]

Usher syndrome is the main cause of deaf-blindness in the UK. The loss of both hearing and vision makes it the most severe form of sensory deprivation.

There are three types of Usher syndrome that cause moderate to profound hearing loss, and progressive loss of vision at varying stages in later life.

As the loss of vision is not present from birth, this makes the early diagnosis of Usher syndrome in children very difficult. The variation in the clinical symptoms also makes it extremely difficult to give information to young people and parents of children with Usher syndrome about the course of the disease.

The aim of the NCUS was to collect data, from 200 individuals with the syndrome, about all three sensory systems affected in the condition (hearing, balance and vision) and to correlate this with their genetic background.

NCUS is now finished and the research team has data on hearing, balance, vision and the genetic status of the participants.

Dr Maria Bitner-Glindzicz, Reader in Clinical Genetics and Consultant Clinical Geneticist at Great Ormond Street worked on the study and says,

“We are still analyzing the enormous amount of data generated by the study so that we can start feeding back to the participants. Because the data is complex and our knowledge still incomplete, we have to validate our genetic results as far as is possible before contacting people with them.

“We will be applying for further funding to continue our research- looking for the genetic causes in those families in whom we have still not found the basis of their Usher syndrome. We are also planning to establish routine genetic testing through the NHS for people with Usher syndrome.

“We have now established a dual sensory impairment clinic at the National Hospital for Neurology and Neurosurgery. Patients can be referred by their GP and can undergo detailed hearing and balance testing as well as visual assessment.

“We now have a group of clinicians who work in a multidisciplinary team and who together have a great deal of experience of Usher syndrome and the different types of hearing loss that are seen in this condition. This has enabled us to see a number of patients with complex hearing and vision impairment, which is not Usher syndrome, in whom we have been able to make a unifying diagnosis of a rare condition and give the patient and family some information about the cause of their problems. Sometimes we can tell them what is likely to happen with their hearing over time, and sometimes studying the patient clinically has provided us with information that we did not previously have about their condition”.

Having this information will provide children born with Usher syndrome, and their families, more accurate information about the course and eventual outcome of the disease, so that they can acquire the technological aids and communications skills they will need as they grow older. It will also hopefully lead to the development of a clear genetic test, which will allow the early diagnosis of Usher syndrome, and also enable Usher syndrome to be ruled out as a cause of childhood deafness in other children, so that parents' minds can be put at rest.

Update

As the project enters its final year, more than 175 families have been recruited and the majority of these have now been through tests of vision, hearing and balance.

Once enough data has been collected, the results can be analysed and correlated to the genetic information and changes in vision, which will ultimately give a fuller picture of the relationship between the genetic background of sufferers and their symptoms. The hope is that more accurate information about the cause and eventual outcome of their condition can then be given to patients with Usher syndrome, so that they and their families can acquire the technological aids and communications skills they will need as they get older. The research will also be valuable in the future when setting up screening tests and diagnostic services.

If you are interested in supporting this project, please send in donations to Deafness Research UK, marked Usher study.

If you would like to help in any other way or would like any further information please email , or telephone 020 7833 1733.