From diagnosis to treatment, the Usher Syndrome Coalition shares everything to know about Usher syndrome.
Usher syndrome is a rare inherited genetic disease that affects hearing, vision and sometimes balance. There are three types — USH1, USH2, and USH3 — and ten causative genes identified. Usher types are differentiated according to the age of onset and the rate of progression of symptoms.
Detecting and diagnosing Usher syndrome
Historically, Usher syndrome was clinically diagnosed. Now, medical professionals often recommend genetic testing if parents are possible carriers, if hearing loss is detected during a newborn hearing screening, or when a patient presents with symptoms of Usher.
Sensorineural hearing loss is usually the first symptom of this condition, ranging from mild to moderate to profound. Retinitis pigmentosa (RP) is the cause of the vision loss associated with Usher syndrome. Early symptoms of RP include difficulty seeing at night or in dim lighting, along with slow, progressive loss of peripheral vision. There is no intellectual disability associated with Usher syndrome.
Due to the rare nature of this condition, it is not uncommon for diagnosis to occur in the late teens, early 20s, or later. Increased awareness and education can lead to a timely diagnosis and connection to resources and support.
If you or a loved one is diagnosed, orientation and mobility training can assure safe travel as night blindness and tunnel vision progress. Accessibility settings on devices such as high contrast, dark mode, increased font size, and screen readers provide access to technology as vision and/or hearing change. Early diagnosis can help to ensure appropriate accommodations are provided in the school environment.
Treatment and support
To date, there is no known FDA-approved treatment for this condition. However, there are many strategies and devices used by the community to manage the symptoms and lead active and fulfilling lives. There is a robust Usher community ready to welcome anyone who is diagnosed, their family, friends, and professionals who serve them. The Usher Syndrome Coalition was created to build, educate, and support the community. You are not alone.
If you or your child have Usher syndrome, sign up for the USH Trust, our most powerful tool to build the Usher community. In addition, by signing up for the Usher Syndrome Coalition’s email list, you will receive monthly newsletters called, “Grounded in Science” where you will learn about the latest science, research updates, insight into mental health and well-being, and USH life hacks.
