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.
About the Disease
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.
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.
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 Living and Thriving pages to learn about many of these resources. A low vision specialist can help recommend the resources that are right for you.
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
The Foundation is supporting several promising avenues of research, including gene, stem-cell, and drug therapies.
For more information on research and clinical trials for Usher syndrome, refer to the Foundation publication Usher Syndrome: Research Advances.
To learn about clinical trials underway for Usher Syndrome, visit www.ClinicalTrials.gov.
Mar 12, 2019 Eye On the Cure Research News
ProQR, a developer of RNA therapies in the Netherlands, announced that the first clinical-trial participant has received its emerging treatment, which targets retinitis pigmentosa and Usher syndrome caused by mutations in exon 13 of the USH2A gene.
Feb 21, 2019 Eye On the Cure Research News
ReNeuron, a cellular therapy developer in the UK, has reported vision improvements in the treated eyes of the first three retinitis pigmentosa (RP) patients in the Phase II part of the Phase I/II clinical trial for its proprietary human retinal progenitor cells (hRPC). The Phase I portion of the trial, completed last year, primarily assessed safety in subjects with minimal remaining vision.
Feb 1, 2019 Retinal Disease Research Advances
Recent developments in research on Usher Syndrome.
Jan 29, 2019 Eye On the Cure Research News
Sofia Sees Hope, a nonprofit dedicated to finding treatments and cures for people with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), has made a $100,000 donation to the Foundation Fighting Blindness to support therapy development and genetic testing.
Jan 17, 2019 Eye On the Cure Research News
The French bioelectronics company Pixium Vision has reported that its PRIMA bionic vision system has restored some central vision in patients with advanced dry age-related macular degeneration (AMD) participating in a clinical feasibility trial.
Dec 4, 2018 Eye On the Cure Research News
ProQR, a biotech in the Netherlands developing therapies for rare diseases, has received authorization from the US Food and Drug Administration to launch a Phase I/II clinical trial for QR-421a, its treatment targeting mutations in exon 13 of the USH2A gene.
Nov 2, 2018 Eye On the Cure Research News
Since 1989 genetic researchers, many funded by the Foundation, have identified approximately 270 genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss.
Sep 11, 2018 Eye On the Cure Research News
On September 4, 2018, seven researchers, including six previously funded by the Foundation, were recognized with the prestigious 2018 Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies.
Aug 15, 2018 Eye On the Cure Research News
Each recipient will receive a total of $375,000 over five years to help build an independent research program in addition to their clinical practices.
Aug 6, 2018 Eye On the Cure Research News
Seventy scientists submitted requests for funding.
Jul 5, 2018 Eye On the Cure Research News
Many research groups from around the world are investigating ways to create new photoreceptors from stem cells for transplantation into the retina for vision restoration.
Jun 22, 2018 Eye On the Cure Research News
Watch VISIONS2018 sessions.
May 7, 2018 Eye On the Cure Research News
Dr. Henry Klassen, jCyte co-founder and investigator at UC Irvine, provides an update on the clinical trials for an RP therapy derived from stem cells.
May 3, 2018 Eye On the Cure Research News
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
May 2, 2018 Eye On the Cure Research News
FFB’s own Dr. Steve Rose, chief scientific officer, reviews our commitment to funding and exploring CRISPR/Cas9 gene editing for inherited retinal disease.
Apr 25, 2018 Eye On the Cure Research News
More than 11,000 eye researchers from around the world — including five intrepid members from FFB’s science team — will gather to participate in what is essentially a massive “show and tell” of the latest scientific advancements.
Apr 9, 2018 Eye On the Cure Research News
An FFB-funded study at Massachusetts Eye andEar Infirmary (MEEI) suggests that vitamin A palmitate supplementation may slow the decline of cone function by nearly 50 percent in children with retinitis pigmentosa (RP).
Feb 14, 2018 Eye On the Cure Research News
The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has entered into a partnership with ProQR to develop a retinal therapy for people with Usher syndrome type 2A (USH2A) caused by mutations in exon 13 of the USH2A gene.
Jan 17, 2018 Eye On the Cure Research News
The French biotech GenSight Biologics has received regulatory authorization in the UK to launch the PIONEER Phase 1 \ 2 clinical trial for its GS030 system — a light-sensing gene therapy (optogenetics) coupled with eyewear, which enhances visual stimulation.
Jan 9, 2018 Eye On the Cure Research News
An exciting year in fighting blindness.
Dec 21, 2017 Eye On the Cure Research News
Some participants reported increased light sensitivity, improved color vision, better mobility, and improved reading ability.
Dec 20, 2017 Eye On the Cure Research News
Known as LUXTURNA™ (voretigene neparvovec), the gene therapy restored vision in a clinical trial for people between the ages of 4 and 44 with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65.
Nov 21, 2017 Eye On the Cure Research News
If a clinic is charging for a stem-cell treatment or procedure for an IRD, it is probably not legit. The expense to the patient is a major red flag.
Oct 13, 2017 Eye On the Cure Research News
FDA Committee Unanimously Recommends Approval for Spark's RPE65 Gene Therapy - Final Decision Due in January 2018
An advisory committee comprised of FDA-selected experts voted unanimously – 16 to 0 – to recommend approval.
Sep 27, 2017 Eye On the Cure Research News
In addition to funding promising biotech start-ups, FFB has played a critical role in developing research talent.
Jul 26, 2017 Eye On the Cure Research News
The high-tech, vision-restoring system interfaces with the visual cortex, the back of the brain where visual input is processed to create the images we see.
Jul 25, 2017 Eye On the Cure Research News
Foundation Fighting Blindness and 4D Molecular Therapeutics Partner to Boost Retinal Gene Therapy Development
The partnership will help companies and researchers quickly obtain and implement high-quality vectors for their retinal gene-therapy development efforts.
Jul 24, 2017 Eye On the Cure Research News
The Foundation Fighting Blindness has taken the translational challenge head on by investing more than $75 million in therapy-development projects with strong clinical-trial potential through its Translational Research Acceleration Program (TRAP), which includes Gund-Harrington Scholar Awards.
Jul 12, 2017 Eye On the Cure Research News
SparingVision received a €300,000 award known as the Honor Prize from the French Ministry of Research. The award is given to new, innovative companies in France competing in a national contest.
May 23, 2017 Eye On the Cure Research News
In its fourth year, the meeting is becoming the world’s most comprehensive overview of the promising research underway for emerging IRD treatments.
May 8, 2017 Eye On the Cure Research News
How the Foundation Fighting Blindness (FFB) provided timely funding of $155,000 to help a lab at the University of California, San Diego (UCSD), leverage a $2 million retinal-gene discovery project.
Apr 28, 2017 Eye On the Cure Research News
Based on lab studies, researchers believe the treatment can preserve and potentially rescue the patient’s existing photoreceptors, thereby saving and possibly restoring vision.
Apr 4, 2017 Eye On the Cure Research News
The study — known as RUSH2A (“R” stands for “rate of progression”) — is beginning in spring 2017 and will take place at about 20 clinical sites around the world. RUSH2A investigators will use a variety of technologies to monitor changes in vision and retinal structure to document and analyze disease progression.
Mar 22, 2017 Eye On the Cure Research News
Dr. Berson dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades.
Mar 16, 2017 Eye On the Cure Research News
“…participation in a study for an emerging therapy that is not regulated by the FDA or another well-recognized regulatory agency like the European Medicines Agency in Europe, is fraught with dangers and can lead to unexpected serious consequences.”
Feb 17, 2017 Eye On the Cure Research News
Jan 19, 2017 Eye On the Cure Research News
The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has announced an investment of up to $7.5 million to advance the potential therapy into and through a Phase II clinical trial.
Aug 9, 2013 Science Education
The Foundation Fighting Blindness is, of course, all about finding treatments and cures for retinal degenerative diseases. However, we are well aware that many of our constituents and their families are dealing with more than just vision loss. That’s because genetic defects causing retinal conditions can sometimes affect other parts of the body. The result is conditions often referred to as syndromes.
Feb 18, 2013 Eye On the Cure Research News
More good news about treatments and technological advances for restoring vision for people with retinal diseases.
Jun 19, 2012 Eye On the Cure Research News
How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment.
Jul 29, 2016 Beacons of Hope
Artist Dana Simon describes her experience with My Retina Tracker, a free and secure online registry for people with inherited retinal diseases.
Sep 10, 2014 Beacons of Hope
“…the best thing is to reach out and network, and access all the resources. The more invested you are in what’s out there, the more you get back.”
Apr 21, 2014 Beacons of Hope
There’s nothing like a sense of urgency to turn what seems like a crazy idea into reality.
Dec 2, 2013 Beacons of Hope
Moira Shea describes her experience with acupuncture.
Apr 10, 2013 Beacons of Hope
Foundation Board Member Moira Shea describes her life with a retinal disease.