What is Usher syndrome?

This page tells you about Usher syndrome, covering symptoms and the different types of the condition. 

What is Usher syndrome? 

Usher syndrome is an inherited condition, meaning it is present from birth.  

Inherited conditions are caused by changes in specific genes you inherit from your parents.  

Genes are sets of information that instruct the growth and development of every cell in every part of your body. 

Changes in specific genes disrupt the healthy growth and development of the hair cells of the inner ear and the cells in the retina of the eyes, causing Usher syndrome. 

It can take years for symptoms to appear and is usually diagnosed in older children or teenagers. 

What are the symptoms of Usher syndrome? 

Hearing loss 

Usher syndrome causes sensorineural hearing loss, which damages the inner ears. 

Some people can manage their hearing loss with hearing aids or cochlear implants. Others lose their hearing completely.  

Sight loss 

Usher syndrome causes sight loss through a condition called retinitis pigmentosa.

Retinitis pigmentosa makes it hard to see at night or when it’s dark or dim, and causes loss of peripheral (side) vision.  

Sight loss happens over time until you’re left with a small area of central vision. This is known as tunnel vision. 

Some people also notice that they cannot make out different colours as clearly as before. 

Some people retain their central vision and a restricted visual field into their 50s. 

Others lose much more of their sight in early adulthood.  

Eventually, most people with retinitis pigmentosa lose most of their sight. 

Balance problems 

For some people, Usher syndrome can cause problems with balance because of damage to the inner ears. 

Other symptoms 

Some people may also get the following eye conditions, which can cause further sight deterioration: 

  • Cataracts.
  • Leakage of blood vessels in the retina causes swelling of the macula. This affects as many as 50% of people with retinitis pigmentosa. 

How common is Usher syndrome? 

Usher syndrome is a rare condition. It affects between 4 and 17 people in 100,000 worldwide. 

What are the chances of inheriting Usher syndrome? 

If you inherit a changed copy of a specific Usher gene, for example MYO7A, from one parent, and also a changed copy of the same gene from your other parent, you will develop Usher syndrome. 

This is called “autosomal recessive inheritance”. 

But, if you inherit a copy of a changed Usher gene from one parent only, you won’t develop Usher syndrome.  

People with only one copy of a changed Usher gene are called “carriers”.  

Can I pass Usher syndrome down to my children? 

If you have Usher syndrome, you’ll always pass down a copy of the changed Usher gene to your children.  

If you’re an Usher syndrome carrier, you have a one in two chance of passing down a copy of the changed gene to your children.  

But your children will only develop Usher syndrome if they also get a copy of the same changed Usher gene from their other parent. 

Can Usher syndrome be prevented? 

Usher syndrome cannot yet be prevented but research continues around the world into the genes that cause the different types of Usher.

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This content was last reviewed in April 2022. We’ll review it again next year.