SynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences

View all Images (3)

Usher syndrome
Other Resources UpToDate PubMed

Usher syndrome

Contributors: Deepak Sobti MD
Other Resources UpToDate PubMed


Usher syndrome is a rare, autosomal-recessive inherited syndrome of sensorineural hearing loss and progressive vision loss (retinitis pigmentosa) due to mutations in the ADGRV1 (GPR98, VLGR1), CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, or USH2A gene. There are 3 distinct types of Usher syndrome and multiple subtypes. Onset is typically in childhood, with varying degrees of hearing loss. Progressive vision loss begins typically in adolescence. Findings include vestibular dysfunction, night blindness, and constricted visual fields (tunnel vision) due to progressive retinitis pigmentosa that eventually leads to total blindness in the more severe types.

Early intervention includes hearing aids, cochlear implant, early speech therapy, and filtered lenses. Testing of family members can allow for early diagnosis and intervention in families known to carry the traits.


Q89.7 – Multiple congenital malformations, not elsewhere classified

57838006 – Retinitis pigmentosa-deafness syndrome

Differential Diagnosis & Pitfalls

  • Alport syndrome
  • Alstrom syndrome
  • Bardet-Biedl syndrome
  • Cockayne syndrome
  • Spondyloepiphyseal dysplasia congenita
  • Flynn-Aird syndrome
  • Friedreich ataxia
  • Hurler syndrome
  • Kearns-Sayre syndrome
  • Norrie syndrome
  • Osteopetrosis (Albers-Schonberg disease)
  • Refsum disease (phytanic acid storage disease)
  • Zellweger syndrome (cerebrohepatorenal syndrome)
  • Retinitis pigmentosa
  • Diffuse choriocapillaris atrophy
  • Gyrate atrophy of the retina and choroid

Best Tests

Subscription Required


Subscription Required

Last Updated:01/25/2022
Copyright © 2024 VisualDx®. All rights reserved.
Usher syndrome
A medical illustration showing key findings of Usher syndrome : Hearing loss, Night blindness, Vision loss
Clinical image of Usher syndrome - imageId=6773539. Click to open in gallery.  caption: 'Retinitis pigmentosa appearing as pigmentary clumping into a bony spicule formation, with severe attenuation of the retinal vessels.'
Retinitis pigmentosa appearing as pigmentary clumping into a bony spicule formation, with severe attenuation of the retinal vessels.
Copyright © 2024 VisualDx®. All rights reserved.