Usher syndrome

Usher syndrome is a rare genetic disease affecting vision and hearing. This genetic disease causes hearing loss or deafness and an eye disease known as retinitis pigmentosa (RP). It may also cause problems with balance.

People with Usher syndrome are born with it but aren't diagnosed as children or teens. No cure is available for Usher syndrome, but treatment can help people with this condition manage their vision, balance and hearing problems. Ensure you consult your child's doctor immediately after you notice symptoms.

Types of Usher Syndrome

Three types of Usher syndrome affect people, and each type causes different mixes of health issues.

People with type 1 of Usher syndrome have:

• Loss of night vision by age 10, with severe vision midlife
• Significant hearing loss (they can only hear loud sounds) or deafness at birth
• Balance problems, including difficulty walking and sitting up

People with type 2 experience:

• Moderate to severe loss of hearing during early childhood
• Normal balance
• Loss of night vision in teenage years and severe vision loss midlife

People with type 3 experience:

• Normal balance
• Normal healthy at birth, with hearing loss starting in childhood
• Loss of night vision in teenage years, with severe vision loss midlife

Types 1 and 2 are the most Usher syndrome.

Symptoms of Usher syndrome

Usher syndrome mostly causes hearing loss or deafness, and RP. Different types of Usher syndrome can cause different symptoms, but they all develop RP.

RP results in the breakdown of cells in the retina, leading to night and side (peripheral) vision loss. As RP progresses, your field of vision narrows until you can only see with your central field of vision. This is called tunnel vision.

Signs of RP children include:

• Taking longer to adjust to light changes
• Difficulty moving in the dark
• Tripping over objects in their path

It makes daily tasks like reading, driving and walking more difficult for adults.

Causes of Usher syndrome

Usher syndrome results from gene changes. The condition is genetic, meaning parents pass the changed genes to their children. Scientists have discovered that nine different genes are responsible for Usher syndrome.

How can my child's doctor diagnose Usher syndrome?

Your child's doctor can diagnose Usher syndrome by asking questions about the child's medical history and testing their vision, hearing and balance.

The eye doctor can check for RP during a comprehensive dilated eye exam. This exam is painless and simple. The eye doctor will give the child's eye drops to widen or dilate their pupils, then check their eyes for RP and other eye conditions. This examination includes a visual field test to check side or peripheral vision.

Other tests may include:

• Electroretinography (ECG) –This test allows the eye doctor to check the retina's sensitivity to light
• Optical coherence tomography (OCT) –uses light waves to take detailed images of the retina
• Videonystagmography – it checks for uncontrolled eye movements, which may indicate balance problems
• Fundus autofluorescence (FAF) imaging – during this test, the doctor will use blue light to take retina images
• Hearing tests – the doctor will check for deafness or hearing loss
• Genetic testing – the doctor may recommend a genetic test to confirm Usher syndrome diagnosis

Treatment for Usher syndrome

Usher syndrome doesn't have a cure, but early treatment can help those with the condition make the most of their vision and hearing. This makes informing your child's doctor immediately after you notice Usher syndrome symptoms important.

• Treatment for vision problems

Vision rehabilitation or training services and low vision aids can help people with Usher syndrome make the most of their vision. Children with Usher syndrome may require learning to read Braille.

Vitamin A may also help slow RP development in some people with Usher syndrome. However, taking excess vitamin A may have serious side effects, so consult your doctor about the benefits and risks of this treatment.

• Treatment for hearing problems

The treatment for hearing problems resulting from Usher syndrome may include:

• Cochlear implants – devices that help people with significant or severe hearing loss hear sounds
• Assistive listening devices or hearing aids – devices that enhance sounds

Some children with Usher syndrome may require learning sign language to aid communication or get hearing training to help them hear and understand sounds.

Routine eye exams at Optimal Vision can help detect retinitis pigmentosa, which aids in Usher syndrome diagnosis. You can schedule an appointment with our experienced eye doctor when you call us on 020 7183 8745.