GTR Home > Conditions/Phenotypes > Usher syndrome, type 2D

Disease characteristics

Excerpted from the GeneReview: Usher Syndrome Type II
Usher syndrome type II is characterized by congenital (i.e., prelingual) bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, intact vestibular responses, and retinitis pigmentosa (RP). RP is progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families.

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Associated genes

Clinical features

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  • Hearing impairment
  • Retinitis pigmentosa

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