Usher Syndrome

Usher syndrome is a rare genetic disorder primarily characterized by deafness or hearing loss and retinitis pigmentosa, a disorder that affects the retina and can cause vision loss. The syndrome is named after the British ophthalmologist Charles Usher, who first described it in 1914.

Types

There are three clinical types of Usher syndrome: type 1, type 2, and type 3.

• Usher syndrome type 1 is characterized by profound deafness from birth, balance issues, and vision problems that begin in early childhood.
• Usher syndrome type 2 is characterized by moderate to severe hearing loss from birth and slower progression of retinitis pigmentosa.
• Usher syndrome type 3 is characterized by variable hearing loss and vision problems that may not appear until adolescence or later.

Causes

Usher syndrome is caused by mutations in any one of at least 11 genes. The proteins made by these genes play vital roles in the inner ear and retina. Mutations in these genes can disrupt the normal function of these structures, leading to hearing loss, balance problems, and vision loss.

Diagnosis

Diagnosis of Usher syndrome is based on clinical findings and can be confirmed by genetic testing.

Treatment

There is currently no cure for Usher syndrome. Treatment is supportive and focuses on managing symptoms. This may include hearing aids, cochlear implants, vitamin A therapy, and other interventions.

Epidemiology

Usher syndrome is the most common condition that affects both hearing and vision. It is estimated to occur in roughly 4 to 17 per 100,000 people.

See also

• Genetic disorder
• Retinitis pigmentosa
• Hearing loss

Usher Syndrome Resources
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