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尤塞氏綜合症

Name of disease:

Usher Syndrome

ICD-10 diagnosis code:

H35.5

Causes:

Usher syndrome is inherited in family in autosomal recessive pattern. It can be divided into three type: Type 1 is associated with the mutation of USH1B and USH1C gene Type 2 is associated with mutation of USH2A gene Type 3 is associated with the mutation of USH3A gene

Mode of inheritance:

It is inherited from parents in autosomal recessive pattern of inheritance

Prevalence:

3-10/100,000

Diagnosis:

The diagnosis of Usher syndrome is based on hearing, balance and vision exam Hearing exam will measure the frequency and loudness of sounds a person can hear while a retinal exam is done to examine the retina Molecular genetic testing for gene mutation can also be used to confirm diagnosis

Age of onset:

Children younger than 10

Common signs and symptoms:

Deafness Night blindness Clear central vision but decreased peripheral vision Retinal degeneration and progressive loss of vision Slow learning of walking Balance dysfunction

Available treatments (medicinal and non-medicinal):

Currently, there is no existing medication treating Usher syndrome. Treatments are mainly directed towards specific symptoms of patients. For example, hearing aids or cochlear implants will be used for hearing loss.

Disease management tips:

Early intervention is important in ensuring children with Usher syndrome to unleash their potential. For example, they shall receive vocational training. Children with Usher syndrome may have hearing loss, which affects their verbal communication. They might use American sign language as a communication option Some research shows that taking a daily hose of vitamin A may slow down the progression of retinal degeneration. However, a long-term high dose vitamin A supplementation will cause adverse effects such as liver disease.

References:

https://rarediseases.org/rare-diseases/usher-syndrome/ https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome

Other useful websites:

More about the disease:https://medlineplus.gov/genetics/condition/usher-syndrome/ Patient groups: Usher Syndrome Societyhttps://www.ushersyndromesociety.org