A treatment for Usher syndrome in 2025!


Apart from deterioration of hearing and eyesight, people suffering from Usher Syndrome more often have health problems. It is still unclear whether this is a consequence of Usher Syndrome or that Usher Syndrome is caused by this. The quality of life can be improved by means of the proper support and aids, but there are also treatments that possibly can relieve or mitigate associated problems.

Sometimes research can also unravel Usher Syndrome and then it may seem that the associated problems are not the result of bad eyesight and hearing, but they appear to be a part of the syndrome.

Stichting Ushersyndroom is in talks with researchers about a new research project that contributes to improving quality of life.


The sleep-wake rhythm is strongly controlled by light. The retina sends signals to the pineal gland in the brains to make the sleeping hormone melatonin when the light intensity decreases. It is known that a decrease of the light perception can disturb this system. However:

  • Many people suffering from Usher Syndrome or people suffering from RP record sleeping problems.
  • The most frequently mutated RP gene (USH2A) is also highly expressed in the pineal gland of animal models.
  • Zebrafishes with mutations in USH2A show a deviating rhythm of sleep-wake behaviour, while with these test animals hardly show any retina degeneration.

The objective of this project is to create a scientific basis for the recognition of sleeping problems with people suffering from Usher Syndrome in order to be able to find the correct treatment and improve their quality of life.

The study consists of two parts: 1) patient-related research to get a more detailed overview of the sleeping problems of RP patients, and 2) studies with zebrafish models to gain more insight into the retina-independent role of Usher proteins in regulating the sleep-wake rhythm. As mutations in USH2A may lead to Usher Syndrome or RP without any hearing problems, in both parts we make a distinction between syndromic and non-syndromic USH2A-related RP.

Various research institutes are involved in this project: the Radboudumc under the leadership of Erwin van Wijk, Slaap/Waakcentrum SEIN, Hospital Gelderse Vallei, Radboud University and the Donders Institute.

This four-year study started in the summer of 2021 and the costs are estimated to be € 285.000,=.  Stichting Ushersyndroom (Dutch Usher Syndrome Foundation) makes a contribution of € 125.000 with co-financing by the Dutch Dr. Vaillantfonds. Other funds that have contributed are: LSBS, ANVVB, Support Fund UitZicht (Beheer ’t Schild), the Gelderse Blindenstichting, FNWI/IWWR.

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