Synonyms: USH1
A rare ciliopathy characterized by profound congenital deafness retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness progressively constricted visual fields and impaired visual acuity. Vestibular dysfunction a defining feature of this form manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on vestibular dysfunction results in difficulty with activities requiring balance.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Usher syndrome type 1?
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Advocacy Organizations
Usher 1F Collaborative
Usher syndrome is the leading cause of inherited deaf-blindness. Mission: The purpose of Usher 1F Collaborative is to fund medical research to find an effective treatment to save or restore the vision of those with Usher Syndrome type 1F.
Usher Syndrome Coalition
To raise awareness and accelerate research for the most common genetic cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families affected by Usher syndrome.
Usher Syndrome Ireland
Usher Syndrome Ireland's mission, as per its governing constitution, is to promote and protect the health of those suffering from genetically inherited Usher Syndrome, through the provision of information for people affected by this condition, and by funding scientific research into the causes, treatment and cure of all types of the condition and publishing the useful results.
Usher Syndrome Society
Education
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Clinical Trials
For a list of clinical trials in this disease area, please click here.