Usher syndrome
Synonyms: Retinitis pigmentosa-deafness syndrome | Retinitis pigmentosa-hearing loss syndrome | USH
A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and in some cases vestibular dysfunction.
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 October 2023.
Newly diagnosed with
Usher syndrome?
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Advocacy Organizations
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 1F Collaborative
Usher 1F Collaborative is a 501c3 nonprofit foundation whose mission 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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.