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Symptoms

Usher Syndrome is the most common genetic cause of deaf-blindness in adults and affects 3-6% of children born with hearing impairment(Kremer et al., 2006). It has an autosomal recessive pattern of inheritance that results in hearing impairment and progressive retinitis pigmentosa, an eye disorder that causes a person’s vision to worsen over time (Kenner et al., 2005).

There are three subtypes of Usher syndrome, each with varying degrees of symptoms and morbidity.
Some common symptoms are:

Clinical Subtypes

Usher syndrome Type I:

Usher syndrome Type II:

Usher syndrome Type III:

Frequency

Usher syndrome affects both males and females, as well as all ethnicities. The prevalence is estimated to be 4-5 per 100,000, with a carrier frequency as high as 1 in 70. Type II is thought to be the most common form of usher syndrome, although the frequency is unknown due it is often misdiagnosed.

If a couple are both carriers, they could have children with Usher Syndrome. If the child receives the changed gene from each parent, that child will have a pair of changed genes. When a person has a pair of changed genes, he or she will have Usher Syndrome. (see diagram below)

Life Expectancy

For all types of Usher syndrome, the overall prognosis is good, as is general health. Intelligence is usually normal, though some educational intervention may be necessary due to issues with hearing and vision loss. Life expectancy is normal.

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