GTR Home > Conditions/Phenotypes > Usher syndrome, type 1E

Disease characteristics

Excerpted from the GeneReview: Usher Syndrome Type I
Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Unless fitted with a cochlear implant, individuals do not typically develop speech. Retinitis pigmentosa (RP), a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.

Clinical features

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  • Retinitis pigmentosa
  • Congenital sensorineural hearing impairment
  • Vestibular areflexia

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