Usher syndrome type 2

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Synonyms: USH2

A rare ciliopathy characterized by congenital moderate-to-severe deafness retinitis pigmentosa developing in the first or second decade and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness constricted visual field (tunnel vision) and later on decreased visual acuity sometimes ending with bare light perception.

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 July 2024

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Usher syndrome type 2?

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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.