Usher Syndrome Type 1

Genes Associated
MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2

Inheritance Pattern
Autosomal recessive

Onset

• Hearing Loss: at birth
• Retinitis Pigmentosa: early infancy-childhood

Symptoms
The most severe type of Usher syndrome that is associated with profound hearing loss at birth, balance issues, and early onset RP.

• Management
  Annual Hearing evaluation; individuals may benefit from hearing aids or cochlear implants.
• Annual ophthalmology and retinal evaluation.
• Balance rehabilitation if needed.

Usher Syndrome Type 2

Genes Associated
USH2A, ADGRV1, WHRN

Inheritance Pattern
Autosomal recessive

Onset

• Hearing Loss: Ranges from birth-adulthood
• Retinitis Pigmentosa: usually around the teenage years

Symptoms
The most common type of Usher syndrome is associated with moderate-severe, non-progressive hearing loss, normal balance, and retinitis pigmentosa.

Management

• Annual Hearing evaluation; individuals may benefit from hearing aids or cochlear implants.
• Annual ophthalmology and retinal evaluation.
• Balance rehabilitation if needed.

Usher Syndrome Type 3 

Genes Associated
CLRN1, HARS1

Inheritance Pattern
Autosomal recessive

Onset

• Hearing Loss: childhood
• Retinitis Pigmentosa: usually around the teenage years

Symptoms
Features include progressive hearing loss, progressive loss of balance, and retinitis pigmentosa.

Management

• Annual Hearing evaluation; individuals may benefit from hearing aids or cochlear implants.
• Annual ophthalmology and retinal evaluation.
• Balance rehabilitation if needed.