Usher syndrome is an inherited genetic disorder that impacts three major senses in the body: vision, hearing and balance. There are nine different genes known to cause Usher syndrome. The severity of the vision loss, hearing loss and balance issues depends on the genetic cause.

What to look out for?

Hearing loss accompanied by a delay in the age a child sits and walks may be due to poor balance often associated with Usher syndrome. Vision loss in Usher syndrome is caused by a progressive vision disorder known as retinitis pigmentosa (RP).

The first signs of RP—night blindness and loss of peripheral vision—may be noticed before the age of 10. The impact on the major senses may differ depending on the genetic cause. Some types of Usher syndrome have both progressive hearing loss and progressive vision loss. Some types of Usher syndrome do not have associated balance problems.

Why is early diagnosis important?

While there is no definitive cure for Usher syndrome, there are a lot of interventions. Many of these interventions are most successful when begun very early in life. An early diagnosis can dramatically impact a family’s decisions about next steps, which can include:

  • Communication skills: Most language is acquired in the first 5 years of life, so access to language should begin right away. Knowing whether a child has Usher syndrome may influence the mode of communication chosen by the family.

  • Safety concerns: Many parents of children with Usher report suspecting that their child had problems seeing at night, but they often only recognize it after an accident has occurred.

  • Educational support planning: Vision and hearing problems can hinder a child’s ability to learn. Early diagnosis can ensure that vision, as well as hearing, are part of a child’s Individual Education Plan (IEP).

Future clinical trials

There are treatments nearing or in clinical trial that hold the hope of slowing, stopping or even reversing the vision loss associated with Usher syndrome. But almost all of these treatments are diagnosis specific. You have to know the specific genetic cause.

How is Usher syndrome diagnosed?

The increased availability of newborn and infant hearing screening programs means that more parents will learn of their child’s hearing loss soon after birth. Genetic testing is the surest way to diagnose Usher syndrome early on.