Usher Syndrome Causes, Retinitis Pigmentosa, Hearing Impairment
Usher syndrome is the most common condition that involves both hearing and vision problems. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndrome are hearing impairment and retinitis pigmentosa, an eye disorder that causes a person's vision to worsen over time. Some people with Usher syndrome also have balance problems. There are three general types of Usher syndrome. Although the syndrome was first described by Albrecht Von Graefe in 1858, it was named for Charles Usher, a British eye doctor, who believed that the condition was inherited or passed from parents to their children.
Causes of Usher Syndrome
Usher syndrome is inherited or passed from parents to their children through genes. Genes are located in every cell of the body, except for red blood cells, which don't have a nucleus. Genes contain instructions that tell cells what to do. Some genes specify traits such as hair color. Other genes are involved in the development of body parts, such as the ear. Still others determine how parts of the body work. Each person inherits two copies of each gene, one from each parent.
Sometimes genes are altered or mutated. Mutated genes may cause cells to act differently than expected. Genes for Usher syndrome are autosomal recessive, a term meaning that 1) Usher genes are located on chromosomes other than the sex chromosomes, and 2) both parents must contribute the mutated gene to the child before the disorder is seen. Usually, parents are unaware that they have an Usher gene because they would need two of the mutated genes in order to show signs of Usher syndrome. A number of different genes have been found to cause the various types of Usher syndrome.
Content Courtesy : www.nidcd.nih.gov
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