Usher Syndrome is the leading genetic cause of deaf-blindness.
Usher Syndrome slowly robs the sight of those who are already deaf.
Who has Usher Syndrome?
It is estimated that Usher Syndrome affects about 25,000 to 40,000 people in the United States and as many as 400,000 in the world. Caused by a rare, autosomal recessive gene (meaning it equally affects males and females, and both parents must have at least one gene to pass to offspring), it manifests itself in three types. Type 1 is the most severe as individuals are born profoundly deaf, experience delayed motor skills and milestones, display ongoing and worsening balance, and have early onset loss of vision.
Usher Syndrome disproportionally affects some populations, such as the French Acadian, Louisiana Acadiana, and the Ashkenazi Jewish populations.
Many people with Usher Syndrome have overcome their loss of hearing by choosing sign or auditory/verbal communication often supplemented by technology (hearing aids and cochlear implants); however, there are currently no options for loss of vision.
How does Usher Syndrome affect hearing?
Deafness in those with Usher Syndrome is caused by an impaired ability of the auditory nerve to transmit sensory input to the brain. This is called sensorineural hearing loss. Alternatively, the gradual vision loss in people with Usher Syndrome is caused by Retinitis Pigmentosa or RP.
How does Usher Syndrome affect vision?
In your eye, the thin layer of tissue at the back of the eye called the retina contains millions of tiny light-sensing nerve cells called photoreceptors. Photoreceptors are divided into rods and cones, and they convert light into electrical impulses that send signals to the brain.
Named for their distinct shape, rods provide peripheral or side vision, detect motion, and help with sight in dim or dark light. Cones are cone-shaped and located in the center of the retina. They provide clear, sharp central vision and detect color and fine detail.
RP in those with Usher Syndrome comes about because a mutated gene in the retina does not produce a protein needed by the rods to survive. In early adolescence, those with Usher Syndrome Type 1 lose their night vision because of the slow destruction of these rods. As the rods die off, peripheral vision begins to narrow, leading to what is known as tunnel vision, where a person can only see out of the very center of the eye.
The central vision, controlled by the cones, is eventually affected, leading to complete blindness. The regression of RP can occur at different rates for different individuals, but many with Type 1 Usher Syndrome are legally blind by early adulthood.
Click to hear a song about living with hearing loss.
Who is Usher 2020 Foundation?
Usher 2020 is a 501(c)(3) non-profit dedicated to finding viable options for those losing sight due to Usher Syndrome. Our mission is simple: Advance research that will bring an end to the loss of sight caused by Usher Syndrome and bring those therapies to clinical trials for patients.
Research funded by Usher 2020 will be in a clinical trial with patient recruitment beginning in early 2023.
Usher 2020 Foundation was founded by Scott Dorfman and Susie Trotochaud, who have twin children, both born profoundly deaf. In 2012, at the age of 12, Usher Syndrome Type 1 was genetically diagnosed as the cause of their hearing loss, balance issues, as well as increasingly deteriorating night and peripheral vision. At that time, Scott and Susie realized they had only a short window to find a treatment for their children before they became legally blind.
After extensive research, it became apparent that scientists had many promising options for working to help those with retinal diseases like Usher Syndrome, but funding to move forward with these therapies was limited. Usher 2020 has helped to fill in the gaps with this funding to move research into the clinic and get treatments to those losing their sight sooner rather than later.
Although our work focuses on those with Usher Syndrome, the research we are supporting will one day translate into therapies to help others with retinal degenerative diseases, with the goal of saving sight for many people throughout the world, now and in the future.
That’s why we will never lose sight of our goal: To bring about an end to blindness caused by Usher Syndrome.
Find out more about how collaboration between Usher 2020 Foundation, other organizations, and researchers are leading to sight-saving advances in retinal degenerative diseases.