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What is Usher Syndrome?
Usher syndrome is a condition that causes hearing loss and vision loss. Hearing loss develops due to loss of nerve function in the inner ear. Vision loss that is caused by Usher syndrome is called retinitis pigmentosa (RP). This develops from gradual loss of light-sensitive cells at the back of the eye (retina).
There are three types of Usher syndrome:
- Type 1. Children with this type have severe hearing loss and balance problems at birth. Vision problems usually develop before age 10, and vision loss quickly progresses to total blindness.
- Type 2. Children with this type have moderate to severe hearing loss at birth. They do not have balance problems. Vision problems usually develop during the teenage or early adult years. The problems develop slowly and do not result in total blindness.
- Type 3. Children with this type have gradual hearing loss that starts later in childhood. They may also have some mild balance problems. Vision problems may start in the late teen years. Total blindness can occur by middle age.
Children with vision loss may still have a small amount of vision in at least one eye.
What are the causes?
This condition is passed from parents to children (inherited). At least 10 genes have been linked to Usher syndrome.
What are the signs or symptoms?
Symptoms of this condition vary from child to child and depend on the type of Usher syndrome.
Type 1
Symptoms of type 1 may include:
- Severe hearing loss at birth.
- Being slow to sit up or walk.
- Vision problems starting before age 10.
- Night blindness. This is usually the first sign.
- Vision loss that continues to get worse over time and results in total blindness.
Type 2
Symptoms of type 2 may include:
- Moderate to severe hearing loss at birth.
- Reduced night vision, usually starting during the teenage years.
- Vision problems that slowly get worse.
Type 3
Symptoms of type 3 may include:
- Gradual hearing loss in childhood that continues into adulthood.
- Vision loss, starting with night blindness.
- Vision problems that might not start until the teen years.
The vision problems of RP almost always start with trouble seeing at night. Eventually, vision narrows to just the area in front (tunnel vision). In some cases, the signs and symptoms of RP may take years to develop.
How is this diagnosed?
This condition is diagnosed based on:
- Symptoms.
- Hearing tests.
If your health care provider suspects Usher syndrome, your child may have more tests, such as:
- Blood tests.
- An eye exam.
- Balance tests.
It may take a while to get a diagnosis of Usher syndrome. Unless your child has hearing loss at birth or hearing loss that is noted soon after birth, a diagnosis may not be made until vision loss begins.
How is this treated?
There is no cure for this condition, but treatment can help manage the symptoms. The treatment options will depend on the type and stage of the syndrome. Early diagnosis is important so treatment can begin as soon as possible.
Hearing loss
Treatment for hearing loss may include:
- Hearing aids.
- American Sign Language (ASL) instruction.
- A type of implantable hearing device that stimulates hearing areas of the brain (cochlear implant).
Vision loss
Treatment for vision loss may include:
- Vitamin A supplements. Taking high doses of vitamin A can slow the progression of RP.
- Independent living services, low-vision services, or braille instruction. These are options for children and adults with significant vision loss.
Follow these instructions at home:
Watching for problems
- Watch for signs that may indicate that your child is having
trouble hearing:
- Not responding to or understanding sounds or speech spoken at a normal volume.
- Watch for signs that may indicate that your child is having
trouble seeing:
- Difficulty seeing things clearly up close, at a distance, or at night.
- Frequent stumbling or bumping into things.
- Frequently blinking, squinting, covering one eye, or rubbing the eyes.
- Watch for signs that may indicate that your child is having
trouble with balance:
- Frequent falls.
- Problems with coordination or walking.
General instructions
- Work closely with your child’s health care providers and teachers to find out what services your child’s school provides to help your child. This may include developing an education program for your child (Individualized Education Program, IEP).
- Have your child get hearing tests (hearing screenings) and vision tests (vision screenings) as often as recommended. These screenings are often offered by schools, community centers, and your child’s health care provider.
- Use mobility aids for balance problems as told by your child’s health care provider.
- Give over-the-counter and prescription medicines and supplements only as told by your child’s health care provider.
- Keep all follow-up visits as told by your child’s health care provider. This is important.
Contact a health care provider if your child:
- Is younger than 6 months old and does not respond to sounds.
- Does not meet expected developmental milestones, such as sitting up without help or walking.
- Has new or worsening hearing loss.
- Has new or worsening vision loss.
- Has new or worsening balance problems.
Summary
- Usher syndrome is a condition that causes hearing loss and vision loss.
- This condition is passed from parents to children (inherited).
- There are three types of Usher syndrome. Symptoms depend on the type of Usher syndrome and vary from child to child.
- It may take a while to get a diagnosis of Usher syndrome. Unless your child has hearing loss at birth or hearing loss that is noted soon after birth, a diagnosis may not be made until vision loss begins.
- There is no cure for this condition, but treatment can help manage the condition. The treatment options will depend on the type and stage of the syndrome. Early diagnosis is important so treatment can begin as soon as possible.