Usher syndrome is the most common cause of combined deafness and blindness, yet it remains largely unknown to the general public. Nearly 50,000 Americans and 400,000 people worldwide are affected.

Usher syndrome impacts three major senses in the body:

  • Vision:  Vision loss in Usher syndrome is caused by a progressive vision disorder known as retinitis pigmentosa (RP). RP causes the light-sensing cells in the retina to gradually deteriorate, initially resulting in night blindness, followed by a narrowing of the visual field, commonly known as tunnel vision. 

  • Hearing:  Children with Usher syndrome are born with or develop hearing loss. It’s estimated that upward of 10 percent of people with congenital bilateral, sensorineural hearing loss have Usher syndrome.

  • Balance: Balance is achieved and maintained through input from your eyes, the vestibular organs in the inner ear and the sensory systems of the body, such as the skin, muscles and joints. Thus, people with Usher syndrome suffer from severe balance issues due to vestibular dysfunction.

What can be done?

There are currently no clinical treatments for the vision loss component. However, a number of potential treatments are reaching clinical trial, including gene therapies, stem cell therapies, and drug therapies.  There is evidence that eating a healthy diet rich in brightly colored fruits and leafy green vegetables combined with fish rich in omega-3 fatty acids may slow the deterioration of the vision. It’s also just a good way to keep healthy.

Early diagnosis is important for people with Usher syndrome. Early identification of Usher syndrome can influence communication and technology decisions for families as they consider the hearing loss. Cochlear implants and digital hearing aids offer people with hearing loss access to sound that was impossible twenty years ago.

An understanding of the night blindness associated with Usher syndrome and other symptoms of the disease can help families address potential safety concerns.  Mobility training in particular can have a big impact on the confidence of people with Usher syndrome and their ability to live independent lives. Mobility training helps people with vision loss learn how to travel independently and is a skill best learned before it is needed.