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Usher syndrome
Usher syndrome is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa & sensorineural deafness
Classification:
- types 1, 2 & 3
- age at onset & differences in auditory & vestibular function distinguish types 1, 2 & 3
Genetics:
- autosomal recessive
- genes associated with Usher syndrome type I
- MYO7A, USH1C, CDH23, PCDH15, SANS
- gene associated with Usher syndrome type II
- USH2, USH2A
- gene associated with Usher syndrome type III
- USH3A
Epidemiology:
- most common cause of combined blindness & deafness in developed countries
- Usher syndrome type IIA is the most common Usher syndrome
Clinical manifestations:
- retinitis pigmentosa, leading to blindness
- variable degrees of hearing loss
- variable degrees of vestibular dysfunction (balance problems)
Management:
1) no cure for Usher syndrome
2) early identification in order to begin educational programs
3) occupational therapy
4) low-vision services
5) auditory training
6) assistive listening devices
a) hearing aids
b) cochlear implants
Specific
Usher syndrome type I
Usher syndrome type II
Usher syndrome type III or IIIA
General
genetic disease of the eye
genetic syndrome (multisystem disorder)
References
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Usher Syndrome
https://www.nidcd.nih.gov/health/usher-syndrome