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Usher Syndrome.

Alessandro Castiglione1,2, Claes Möller1,2

  • 1Audiology Department, Örebro University Hospital, 70210 Örebro, Sweden.

Audiology Research
|January 25, 2022
PubMed
Summary
This summary is machine-generated.

Usher syndrome (USH) is a common genetic disorder causing hearing and vision loss. This review covers USH genetics, diagnosis, and emerging treatments for this rare disease.

Keywords:
Usher syndromeciliopathiesgenetic hearing loss

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Area of Science:

  • Genetics
  • Ophthalmology
  • Audiology

Background:

  • Usher syndrome (USH) is the leading genetic cause of combined hearing and vision loss.
  • First described in 1858 and named after Charles Usher, it affects multiple senses.
  • USH presents with varying clinical subtypes (1, 2, 3) linked to distinct genetic mutations.

Purpose of the Study:

  • To provide a comprehensive overview of Usher syndrome.
  • To detail the genetic basis, clinical manifestations, and inheritance patterns.
  • To review current research, diagnosis, prognosis, and therapeutic strategies.

Main Methods:

  • Narrative review of existing literature.
  • Analysis of causative genes and their associated Usher syndrome types.
  • Synthesis of information on diagnosis, epidemiology, and management.

Main Results:

  • Nine causative genes identified for USH types 1, 2, and 3.
  • Autosomal recessive inheritance is typical, with digenic, polygenic, and dominant forms also reported.
  • The review consolidates data on USH epidemiology, diagnosis, and rehabilitation.

Conclusions:

  • Understanding the genetic heterogeneity of USH is crucial for accurate diagnosis and management.
  • Ongoing research into causative genes and novel treatments offers hope for improved patient outcomes.
  • A multidisciplinary approach is essential for addressing the complex needs of individuals with Usher syndrome.