In 1914, Scottish ophthalmologist Charles Usher reported on 69 patients who were deaf and who also had retinitis pigmentosa (RP), a progressive, degenerative condition of the retina. This landmark research resulted in the designation of Usher syndrome as a unique disease.

Today’s status

Now, more than 100 years later, researchers estimate that there are at least 400,000 individuals with Usher syndrome worldwide, with approximately 40-50,000 of those individuals living in the United States.

Small studies on individuals and groups with Usher syndrome have been conducted throughout the years in areas such as genetics, health, psychosocial issues and more. But large-scale studies focusing only on individuals with Usher syndrome have not been possible. Researchers, health care professionals, individuals with Usher syndrome and their families are working together to change this.

Identification

Until recently, there has been no separate registry of people with Usher syndrome. They have typically been included in studies and demographics of the larger communities of children or adults who are deaf-blind.

"Finding everyone with Usher syndrome is the key to successful research." 

An international Usher syndrome registry was established in 2011 with the goal of quickly and easily providing connections between researchers and this unique population. Efforts are now underway to enroll everyone with Usher syndrome worldwide.

Outreach

Individuals with Usher syndrome communicate in a variety of ways depending on the onset and degree of hearing and vision loss. Fortunately, the Internet has created a common and accessible space for people to find information and connect.

In order for an individual with symptoms of Usher syndrome to be eligible for participation in clinical trials, a diagnosis of Usher syndrome must be genetically confirmed. Only a small number of people have had genetic testing and not everyone is willing or can afford to have it done.

Many adults were diagnosed phenotypically—that is, based on the existence of combined hearing loss and RP. In families with multiple siblings who were deaf-blind, a diagnosis of Usher was assumed and genetic testing would probably not be pursued. And older adults who have already adjusted to the full loss of vision may not feel the need to have the diagnosis confirmed genetically. Yet without the participation of this group, researchers cannot get a complete picture of the nature of Usher syndrome.

Finding everyone with Usher syndrome is the key to successful research. An international registry is an important tool for identifying these individuals and connecting them with researchers worldwide. After that, treatments, interventions and a cure won’t be far behind.