Usher Syndrome Research Paper

Usher syndrome is an orphan disease that is extremely common, but is often swept under the rug. It is an inherited disorder that appears in mostly children at a young age and is the most frequent cause of deaf-blindness in humans. It is characterized by hearing impairment that leads to total deafness along with progressive vision loss. There are four levels of Usher Syndrome, Usher Type I, Usher Type II, Usher Type III, and Usher Type IV. Usher Type II is the most common type of Usher Syndrome. It is a terrible condition to have, but it is very livable for people. The disease was first described in 1914 by a man named Charles Usher. As one can see the syndrome was later named after him. The disease was actually around since the 1860s but until 1914 was never actually …show more content…
As time continued more and more gene were discovered. (Wallber) All forms of Usher Syndrome were found to be inherited from both of the parents, not just one. Since the first findings we have had many more discoveries within the syndrome. When children are born with Usher Syndrome, many parents are shocked. Most families that have a child with Usher Syndrome did not have any trace of it in their history. It is actually extremely rare to see it. At first, it is not something you can physically see. The four different types of the syndrome all possess different symptoms. In Usher I a symptom is complete hearing loss at birth and the child may have extreme balance issues. The person’s vision is a progressive loss. Vision loss does not often start until the age of ten and night blindness comes with the age of twenty. Type II is characterized by a moderate to complete loss of hearing at a child’s birth. Luckily, after that, in most cases, the problems do not worsen. Retinitis pigmentosa or vision loss often occurs in a person’s late teens or their early twenties. Then later on, the night blindness appears in their twenties and thirties. With Usher