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Usher syndrome type 3

Disease definition

A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.


Classification level: Subtype of disorder
  • Synonym(s):
    • USH3
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: H35.5
  • ICD-11: LD2H.4
  • OMIM: 276902  500004  614504
  • UMLS: C1568248
  • MeSH: -
  • GARD: 5442
  • MedDRA: -

Detailed information

General public


Genetic Testing

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