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

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.

Available tests

23 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B, MYO7A
    Summary: myosin VIIA

  • Also known as: AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst, USH1C
    Summary: Usher syndrome 1C (autosomal recessive, severe)

Clinical features

Help
  • Abolished electroretinogram (ERG)
  • Sensorineural hearing impairment
  • Retinitis pigmentosa
  • Visual loss
  • Motor delay
  • Absent vestibular function
Show all (6)
Go to complete MedGen record for Usher syndrome, type 1

Clinical resources

Practice guidelines

  • ACMG, 2014
    American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.
  • EuroGenetest, 2011
    Clinical utility gene card for: Usher syndrome.

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