Usher Syndrome: A Rare Vision Disease

While many eye patients are familiar with common eye problems such as glaucoma, cataracts, and macular degeneration, there are other eye problems that are considered to be less well-known. One of these conditions is known as usher syndrome, a problem that affects not only sight, but hearing as well. It is a genetic condition that affects approximately one out of every 100,000 babies who are born with it in the United States.

What is It?

Usher syndrome occurs in types 1, 2, and 3, but most people who have it in the US are most often diagnosed as having type 1 or 2. The disease is a result of certain children being born with a mutated gene that has been passed down from one or both parents who have the recessive usher syndrome gene. This means that the parents do not know they have the recessive gene, and the child may not present symptoms until they are older. Unfortunately, there is often no way of knowing if someone will have usher syndrome until they've been officially diagnosed.

The Three Types of Usher Syndrome

Clinically, usher syndrome presents itself in three different types:

• Type 1: For type 1 patients, children are most often already deaf at birth and can experience extreme difficulty in balancing. Hearing aids are usually little to no help and it is important for children to have proper communications skills such as sign language taught to them as soon as possible. Vision problems do not usually present themselves until early childhood, and can begin with trouble seeing at night. Sadly, the vision problems continue to get worse until the patient is completely blind.
• Type 2: Usher syndrome type 2 presents itself with slight hearing loss and normal balance skills. Over time, the hearing can decline as well as vision. Fortunately, the progression of type 2 is much slower, and many patients are able to be assisted with hearing aids in order to hear properly. Vision issues like retinitis pigmentosa (loss of cells in the retina) do not usually begin until the teenage years.
• Type 3: With type 3 patients, there is no hearing problem initially, although balance may be difficult. Type 3 progresses much slower than type 1 and 2. Hearing aids may not be needed until the child has reached their teens, and the vision problems such as night blindness also begins around this time. In most cases, patients become legally blind when they reach young adulthood. Contact your local eye doctors for more information about this condition.

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