Often diagnosed in childhood or adolescence, Usher syndrome is an inherited disease causing combined hearing loss and vision loss from retinitis pigmentosa. The condition can also cause problems with balance.
What is Usher Syndrome?
Usher syndrome is an inherited condition characterized by progressive vision and hearing loss. Balance may also be affected. Symptoms and disease progression vary from person to person.
The vision loss is due to retinitis pigmentosa (RP), a degenerative condition of the retina, and usually appears during childhood, adolescence or early adulthood. The retina is a thin layer of tissue lining the back of the eye composed of light-sensing photoreceptor cells. These cells — also known as rods and cones — are responsible for converting light into electrical signals that the brain interprets as vision.
Hearing loss in Usher syndrome occurs, because the gene mutations affecting the retina also affect the cochlea, a sound-transmitting structure of the inner ear.
Researchers estimate that as many as 25,000 people in the U.S. have Usher syndrome. Worldwide, it is the leading cause of combined deafness and blindness. About 30 percent of people with RP report some degree of hearing loss, and about half of them are diagnosed with Usher syndrome.
Symptoms
There are three general categories of Usher syndrome. People with Usher syndrome type 1 (USH1) are usually born with severe hearing loss and experience problems with balance. The first signs of RP — night blindness and loss of peripheral vision — usually appear in early adolescence.
In Usher syndrome type 2 (USH2), newborns have moderate to severe hearing impairment. Symptoms of RP typically start shortly after adolescence. Visual problems progress less rapidly than in Usher type 1, and hearing loss usually remains stable.
A rarer third type of Usher syndrome (USH3) was documented in 1995. Children with USH3 are usually born with good or only mild impairment of hearing. Their hearing and vision loss are progressive, starting around puberty. Balance may also be affected.
Usher syndrome is further subdivided into types, based on the mutated gene causing the disease. For example, people with Usher syndrome type 1B have mutations in the MYO7A gene.
The most common genes associated with Usher syndrome are CLRN1, MYO7A, PCDH15, and USH2A.
Inheritance
Usher syndrome is passed from parents to their offspring through an autosomal recessive inheritance pattern. In autosomal recessive disease, both parents carry one copy of the mutated gene and one normal copy, but have no symptoms themselves. They are therefore referred to as unaffected carriers. Each of their children has a 25 percent chance of being affected by inheriting a mutated copy from each parent. If the child inherits one mutated copy from one parent, they will be an unaffected carrier.
Living with Usher syndrome
There are many services and accommodative and assistive resources available to people and families with Usher syndrome. Visit the Foundation’s Low Vision Resources page to learn about many of these resources. A low vision specialist can help recommend the resources that are right for you.
Genetic Testing
Genetic testing is available to help people definitively diagnose their condition and the risk of other family members or future offspring being affected. A genetic diagnosis can also help a person qualify for a clinical trial. Genetic counselors are excellent resources for discussing inheritability, family planning, genetic testing, and other related issues.
Research and Clinical trials
For more information on research and clinical trials for Usher syndrome, refer to the Foundation publication Usher Syndrome: Research Advances.
View a list of current clinical trials, many made possible by Foundation support.
Usher Syndrome page at www.ClinicalTrials.gov.
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Latest News
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Oct 11, 2024
Safety Clinical Trial Launched for Usher Syndrome 3 Drug
Researchers hope the molecule will slow the vision and hearing loss associated with USH3.
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Sep 18, 2024
AAVantgarde Bio’s Dual-Vector USH1B Gene Therapy Moves into Phase 1/2 Clinical Trial
The trial is the first ever for a dual AAV gene therapy delivered to the retina.
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Aug 14, 2024
Foundation Fighting Blindness and Usher III Initiative Partner to Launch a Natural History Study for Usher Syndrome Type 3
The four-year study will inform clinical trial design for emerging USH3 therapies.
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Mar 25, 2024
BlueRock Therapeutics and Foundation Fighting Blindness announce collaboration to expand the Uni-Rare natural history study of patients living with inherited retinal diseases
Collaboration will add a new multi-gene cohort of patients living with inherited retinal diseases. Data insights from the new study cohort will inform the future clinical trial design for BlueRock’s pipeline of cell therapies for treating blindness.
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Sep 7, 2023
Foundation Funds 25 New Grants Totaling $15.1 Million in FY23
The global leader in retinal degenerative disease research supports a total of 93 research grants in its portfolio.
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Nov 10, 2022
Foundation Launching its Largest Natural History Study to Date for 1,500 People with Inherited Retinal Diseases Caused by Rare Mutated Genes
Uni-Rare Study will improve clinical understanding of more IRDs and boost development of potential therapies.
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Apr 29, 2021
Foundation Fighting Blindness and Usher 1F Collaborative to Launch Natural History Study
The project will help identify outcome measures for future clinical trials of potential USH1F therapies.
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Sep 24, 2020
Foundation Fighting Blindness To Jointly Host Online Continuing Medical Education (CME, COPE) Webinar
The event will review best practices for care and management of patients with inherited retinal diseases such as retinitis pigmentosa, Usher syndrome, and Stargardt disease.
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Aug 21, 2020
Foundation Fighting Blindness Commits $6.5 Million for New Retinal Disease Research Grants
New grants include development of CRISPR/Cas9 gene-editing treatments, new disease models, and a retinal regeneration therapy
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Mar 31, 2020
COVID-19 Resources
The Foundation Fighting Blindness is closely monitoring the COVID-19 situation and its impact on the IRD community.
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Feb 6, 2020
ProQR Therapeutics Teams Up with the Foundation Fighting Blindness and Blueprint Genetics to Support the My Retina Tracker® Program for People Living with Inherited Retinal Diseases
My Retina Tracker Program is the highest volume IRD genetic testing program in the U.S.
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Oct 2, 2019
Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States
The program will offer patients with inherited retinal disease no-cost genetic testing and genetic counseling in the United States. Look for updated information on how to participate to be posted in mid-October, with program registration starting shortly thereafter.
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Aug 16, 2019
Foundation Fighting Blindness Investing Nearly $6.5 Million in New Grants
The newly funded research efforts include several therapies that have strong potential to treat a wide range of inherited retinal diseases.
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May 9, 2019
Foundation Fighting Blindness Endorses 'Eye Bonds' Legislation
Bipartisan Bill Will Stimulate Up to $1 Billion in New Funding for Blindness Research
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Jul 19, 2018
Foundation Fighting Blindness Urges Congress to Pass ‘Eye-Bonds’ Legislation
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
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Jun 8, 2018
Foundation Fighting Blindness and CheckedUp® Partner to Educate Retinal-Disease Patients About Research, Resources, and Emerging Therapies During Doctor Visits
The Foundation Fighting Blindness (the Foundation) and CheckedUp have formed a collaborative partnership to deliver patient-friendly diagnostic and disease-management information to people with retinal diseases such as age-related macular degeneration, retinitis pigmentosa, and Stargardt disease during their visits to eye doctors.
Related Resources
Sep 25, 2020
ProQR Announces Virtual Presentations at Scientific Conferences
ProQR Therapeutics N.V. (Nasdaq:PRQR), a company dedicated to changing lives through the creation of transformative RNA therapies for severe genetic rare diseases, today announced virtual presentations at the Ophthalmology Futures Retina Forum, European Society of Retina Specialists (Euretina) congress and the Annual Meeting of the American Academy of Optometry (AAOpt).