Usher syndrome is the most common condition that affects hearing and vision and is the leading cause of deaf-blindness in the United States and Europe. The three types of Usher syndrome are all manifested by progressive vision loss from retinitis pigmentosa (RP), marked by night blindness and an ever narrowing tunnel of central vision, often ultimately leading to blindness. Vision loss is typically diagnosed around the second decade of life.
Those affected with Usher type I are born profoundly deaf. Type II usher involves more moderate congenital hearing loss that remains stable throughout the individual’s lifetime. With Usher type III, which affects Rebecca, hearing loss is progressive, generally leading to profound deafness.
In the United States, Usher syndrome of all types affects approximately 1 in 23,000 individuals and accounts for around 30,000 to 50,000 people. Usher type III is the most rare form, with as few as 100 cases currently identified in the United States, another 100 in Finland, and more than 100 in other parts of the world.
Usher syndrome was first identified in October 2001 when research findings of a team of Finnish scientists were published in the American Journal of Human Genetics.
Each type of Usher syndrome is caused by a recessive mutation in a gene that is inherited from each parent.
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