Usher syndrome

Introduction

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

Epidemiology

• most common cause of combined blindness & deafness in developed countries
• Usher syndrome type IIA is the most common Usher syndrome

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

Clinical manifestations

• retinitis pigmentosa, leading to blindness
• variable degrees of hearing loss
• variable degrees of vestibular dysfunction (balance problems)

Management

• no cure for Usher syndrome
• early identification in order to begin educational programs
• occupational therapy
• low-vision services
• auditory training
• assistive listening devices
  • hearing aids
  • cochlear implants

More general terms

• genetic disease of the eye
• genetic syndrome (multisystem disorder)

More specific terms

• Usher syndrome type I
• Usher syndrome type II
• Usher syndrome type III or IIIA

Patient information

Usher syndrome patient information