The Usher Syndrome Coalition – Building the Usher Syndrome Community, One Person at a Time.

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By Nancy O’Donnell

The Usher Syndrome Coalition – Building the Usher Syndrome Community, One Person at a Time.

Usher syndrome (USH) is the most common genetic cause of combined deafness and blindness. It is a rare disease, impacting an estimated 400,000 individuals worldwide and 20-50,000 individuals in the United States. (1,2) While there is currently no cure, over a century of scientific discovery has resulted in tremendous advances in the development of treatments. Despite these advances, less than one percent of this community is known to researchers, putting future research and clinical trials at risk. Healthcare professionals can play a critical role in identifying children and adults with Usher syndrome and connecting them to resources. 

HISTORY OF USHER SYNDROME

Usher syndrome was first described in 1858 by German ophthalmologist Albrecht von Graefe who studied three siblings with deafness and progressive vision loss caused by retinitis pigmentosa (RP). In 1914, Scottish ophthalmologist Dr. Charles Usher studied 69 families and identified an inherited recessive condition causing deafness and progressive vision loss in a subset of these families. (3) This syndrome was later named after Dr. Usher.

The early years of research were focused on identifying the different types of Usher syndrome, its prevalence, and psychosocial aspects. Before genetic testing became available, children and adults were diagnosed phenotypically, or based on observable symptoms such as a history of early-onset hearing loss, progressive vision loss, and the absence or presence of vestibular involvement. Genetic testing can now confirm the diagnosis through a simple blood test. 

 TYPES OF USHER SYNDROME

Three types and ten confirmed genetic subtypes of Usher syndrome have been identified to date, distinguished by the severity of hearing loss, age of onset of hearing and vision loss, and the presence or absence of vestibular function.

In 1995, researchers identified the first gene for Usher syndrome. In subsequent years, additional discoveries located genes for five subtypes within USH1, three for USH2, and two for USH3.

Table 1. Usher Syndrome Types and Typical Symptoms 
SubtypesHearingVisionBalance
Type 11B, 1C, 1D, 1F, 1G Profound hearing loss or deafness at birthDecreased night vision by age 10, progressing to severe vision loss by midlife.Balance problems from birth
Type 22A, 2C, 2DModerate to severe hearing loss at birthDecreased night by adolescence, progressing to severe vision loss by midlife.Normal balance
Type 33A, 3BProgressive hearing loss in childhood or early teensVaries in severity; night vision problems often begin in teens and progress to severe vision loss by midlife.Normal to near-normal balance in childhood; chance of later problems

Adapted from: https://www.nidcd.nih.gov/health/usher-syndrome

Historically, a diagnosis of Usher syndrome offered few options and resources. Many individuals were erroneously told that they would be totally blind by a certain age and that the syndrome is so rare they would probably never meet another person with USH. In addition, there was no central location to find or access researchers around the world who were working to understand and treat the vision, hearing, and balance issues associated with Usher syndrome. The Usher Syndrome Coalition was created to build the Usher community and make valuable connections with each other and the research community. 

THE USHER SYNDROME COALITION

In 2008, a handful of researchers and families devoted to supporting those living with Usher syndrome met to discuss ways in which they could work together. This initial meeting led to the creation of the Usher Syndrome Coalition, the largest organization dedicated exclusively to Usher syndrome worldwide. Since then, the Coalition has worked to gather and share the latest information and resources and serve as the bridge between the Usher community and the research community. The Coalition educates and connects individuals, families, and service providers worldwide through its USH Connections Conference, private email group (USH Blue Book), USH Trust contact database, educational USH Talks, and partnerships with other USH-related organizations. For those who are passionate about research, we recently announced the Usher Syndrome Data Collection Program, powered by RARE-X. Today, there is hope and a community of support.

THE IMPORTANCE OF EARLY DIAGNOSIS

Early diagnosis of Usher syndrome is critical so that individuals and families can find support, make informed decisions about communication, and consider options for education, employment, and beyond. Yet finding the community is still a challenge. The 2020 National Child Count of Children and Youth Who Are Deaf-Blind (5) reported 413 children with Usher syndrome, birth to 21, served by the state deafblind children’s projects in the United States. This number represents only a fraction of the thousands of children estimated to have USH.(6) The Usher Syndrome Coalition maintains the largest international registry of individuals of all ages and types of Usher syndrome, yet that, too, has less than 1% of the total population worldwide.

OPPORTUNITIES

Universal newborn hearing screenings have dramatically increased the number of infants identified as deaf or hard of hearing.(7)  Parents of these infants will immediately be referred to a hearing healthcare professional who can play a pivotal role in recognizing the early symptoms of Usher syndrome if they are aware of the functional impact of Usher on a child’s development and behavior. These include: 

  • Type 1 – In addition to profound deafness, children with Usher type 1 experience vestibular issues from birth that delay the child’s ability to sit upright, stand, and learn to walk. Night blindness, or nyctalopia, is the first symptom of RP to manifest. Signs of night blindness may include a child appearing to be clumsy, or expressing an unusual fear of the dark. Children with type 1 typically experience progressive loss of peripheral vision starting in the first decade of life. 
  • Type 2 -Children with Usher type 2 experience moderate to severe hearing loss, often present at birth. The hearing loss is typically milder in the low frequencies and more severe in the higher ones. Children with type 2 often use hearing aids and communicate with spoken language. Functional implications of Usher 2 in later years may include a perceived loss of hearing, which may actually be related to the impact of progressive vision loss on the ability to speech read. However, some individuals with type 2 do report a progressive loss of hearing. 
  • Type 3 – This is the rarest type of Usher syndrome and the vision and hearing loss may not express until the teen years or later. Vestibular dysfunction is variable. USH3A is more common in individuals of Ashkenazi Jewish or Finnish heritage. Usher 3B has been identified in the Mennonite/Amish community and, more recently, in individuals of Indian heritage. 

Newborn hearing screenings, genetic testing, technology, and the Internet have accelerated the early – even prenatal – diagnosis of children with all types of Usher syndrome. A growing international and connected community has resulted in tremendous advances toward the understanding of Usher syndrome and work to develop treatments for this rare genetic disorder. In addition to intensive research, the community’s greatest resource is people living with Usher syndrome. 

As the first point of contact, professionals working in education and healthcare can play a critical role in helping to identify infants, children, and adults with Usher syndrome. Together, we can help to find, educate, support, and connect the Usher community, one person at a time.

Here are some of the resources available through the Usher Syndrome Coalition. More information can be found on our website:  

References

  1. University of Iowa, Project Usher https://ivr.uiowa.edu/Project%20Usher
  2. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genetics in medicine: official journal of the American College of Medical Genetics. 2010;12(8):512-6.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3131500/
  3. Institut De La Vision https://www.institut-vision.org/en/28-diseases/91-usher-syndrom.html
  4. Hereditary Hearing Loss https://hereditaryhearingloss.org/usher 
  5. National Center on Deaf-Blindness, 2020 National Child Count of Children and Youth Who Are Deaf-Blind Report: https://www.nationaldb.org/media/doc/2020_National_Deaf-Blind_Child_Count_Report_FINALEDITED_a.pdf 
  6. National Center on Deaf-Blindness, 2017 National Webinar: Starting a National Dialogue on Finding Children with Usher Syndrome; https://nationaldb.org/library/page/2650
  7. Evaluation of the Universal Newborn Hearing Screening and Intervention Program, PEDIATRICS Volume 126, Supplement 1, August 2010 S  www.aappublications.org/news  

Updated 2023.5.1

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