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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
Summary
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.
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.
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