Usher syndrome

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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 Data version June 2024

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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.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.