On the recordJuly 29, 2015
I wish to bring attention to a genetic condition known as Usher syndrome. Usher syndrome is the most common form of combined deafness and blindness in the United States, impacting as many as 50,000 Americans, not including their families, friends, and communities. It is estimated that 82 percent of those afflicted by deaf-blindness are unemployed. In the United States, the annual economic cost of blindness alone is estimated at 145 billion dollars. Usher syndrome results when there are mutations in genes that are important for the function of both photoreceptors in the retina and hair cells in the cochlea, or inner ear. To date, 11 genes have been identified that can cause different subtypes of Usher syndrome when mutations take place. These mutations usually lead to a deficiency of a protein that is critical for the health and function of the retina and cochlea. Usher type 1 individuals are born deaf and then learn, often before adolescence, that they are also losing their vision. Usher type 2 individuals are born with moderate to severe hearing loss and then in the prime of their adolescent lives are told that they are losing their vision. Usher type 3, usually diagnosed during adolescence, leads to the slow loss of both hearing and vision. Life with Usher syndrome requires constant adaptation to the loss of vision, caused by retinitis pigmentosa.…





