Usher syndrome type 2

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Usher syndrome type 2

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 March 2024

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Usher syndrome type 2?

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