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Ciliopathy: Usher Syndrome.

Stephen H Tsang1,2, Alicia R P Aycinena3, Tarun Sharma4

  • 1Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology
|December 23, 2018
PubMed
Summary

Usher syndrome, a ciliopathy, causes retinitis pigmentosa and hearing loss. This genetic disorder affects vision and hearing, with subtypes varying in severity and age of onset.

Keywords:
CiliopathyRetinitis pigmentosaUsher syndrome

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Area of Science:

  • Ophthalmology
  • Genetics
  • Audiology

Background:

  • Ciliopathies arise from defects in cilia function, impacting multiple organ systems due to widespread ciliary presence.
  • Usher syndrome is the leading genetic cause of retinitis pigmentosa (RP), a progressive retinal dystrophy.
  • RP in Usher syndrome is typically rod-cone dystrophy, affecting photoreceptors.

Purpose of the Study:

  • To describe the clinical characteristics and subtypes of Usher syndrome.
  • To highlight the genetic basis and inheritance patterns of Usher syndrome.
  • To detail the audiological and vestibular manifestations associated with Usher syndrome subtypes.

Main Methods:

  • Review of clinical features, inheritance patterns, and diagnostic criteria for Usher syndrome subtypes.
  • Analysis of audiological and ophthalmological findings in patients with Usher syndrome.
  • Classification of Usher syndrome into types 1, 2, and 3 based on clinical presentation.

Main Results:

  • Usher syndrome accounts for 10-20% of RP cases, inherited in an autosomal recessive manner.
  • Usher Syndrome 1 (USH1) involves profound hearing loss, absent vestibular function, and early-onset RP (70% of cases).
  • Usher Syndrome 2 (USH2) presents with moderate-to-severe hearing loss, normal vestibular function, and later RP onset (26% of cases). Usher Syndrome 3 (USH3) features progressive hearing loss and RP (4% of cases).

Conclusions:

  • Usher syndrome is a significant genetic cause of combined vision and hearing loss.
  • Subtyping Usher syndrome is crucial for understanding disease progression and potential interventions.
  • Early diagnosis and management are vital for patients with Usher syndrome to address sensory impairments.