Usher syndrome type 1

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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 June 2024

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Usher syndrome type 1?

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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.