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.
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.
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 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.
Feb 10, 2023
Eye on the Cure Podcast – Episode 40: Rebecca Alexander
February 10, 2023. Rebecca Alexander talks candidly with host Ben Shaberman about her journey with Usher syndrome. Reflecting on her own experiences, she discusses how people with vision loss and their loved ones can practice good emotional care and advocate for their needs.
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.
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.
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.
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
Aug 4, 2020
Foundation Insights Forum – July 30, 2020
The Foundation Fighting Blindness is pleased to provide an audio recording and full transcript of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on July 30, 2020.
Mar 31, 2020
The Foundation Fighting Blindness is closely monitoring the COVID-19 situation and its impact on the IRD community.
Feb 6, 2020
Foundation Insights Forum – January 31, 2020
The Foundation Fighting Blindness is pleased to provide an audio recording and full transcripts of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on January 31, 2020.
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.
Nov 8, 2019
Foundation Insights Forum – October 30, 2019
The Foundation Fighting Blindness is pleased to provide an audio recording and full transcript of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on October 30, 2019.
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.
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.
May 9, 2019
Foundation Fighting Blindness Endorses 'Eye Bonds' Legislation
Bipartisan Bill Will Stimulate Up to $1 Billion in New Funding for Blindness Research
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
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.
Apr 10, 2023
Usher Syndrome Research Advances
Recent developments in research on Usher Syndrome.
Aug 11, 2022
ProQR Seeking to Partner Ophthalmic Programs
The company is halting its clinical programs for LCA10 and USH2A as it seeks a new partner
Jan 7, 2022
Foundation’s RD Fund Invests in SalioGen Therapeutics, Developer of Novel Gene Coding Technology for Treating Inherited Retinal Diseases
The company is currently developing programs for Stargardt disease (ABCA4), Usher syndrome, RP25 (EYS), and RP1.
Dec 17, 2021
ProQR Doses First Patients in Phase 2/3 Clinical Trials for its USH2A-Exon 13 RNA Therapy
The Sirius trial is for USH2A (exon 13 mutations) patients with advanced vision loss. The Celeste trial is for USH2A (exon 13 mutations) patients with moderate to early vision loss.
Oct 8, 2021
Foundation Hosts Workshop on USH1B Research and Therapy Development
Emerging dual-vector gene therapies to address current cargo-size limitations were highlighted during the meeting.
Sep 9, 2021
Optogenetics: Hope for Vision Restoration for Advanced Retinal Diseases
Early, encouraging results from two human studies — trials launched by Bionic Sight and GenSight — are putting optogenetic therapies in the spotlight for patients with advanced vision loss from retinal conditions.
May 24, 2021
Investigators Report Partial Vision Restoration for One Patient in Optogenetic Therapy Trial
The gene-agnostic approach is designed to restore some vision to people with advanced vision loss
Apr 9, 2021
Foundation Invests $5.5 Million in Seven New Translational Research Projects
Projects target a variety of conditions including: age-related macular degeneration, Stargardt disease, retinitis pigmentosa, and Usher syndrome type 3A
Mar 24, 2021
ProQR’s RNA Therapy for USH2A Performs Well in Phase 1/2 Clinical Trial
The company is planning two Phase 2/3 clinical trials for the treatment
Aug 3, 2020
Foundation Invests $3 million in Atsena Therapeutics, New Company Developing GUCY2D-LCA1 and MYO7A-USH1B Gene Therapies
With a founding investment from Hatteras Venture Partners, Atsena has raised a total of $8.15 million for its launch.
May 21, 2020
Nacuity’s Emerging Anti-Oxidative Therapy Moves into Clinical Trial
The oral treatment shows promise for slowing vision loss in people with RP and Usher syndrome, regardless of genetic profile
May 4, 2020
#GivingTuesdayNow Featured Researcher Dr. Shannon Boye
A Lifelong Science Nerd is Winning the Fight Against Blindness
Apr 1, 2020
Interim Results Released for USH2A RNA Therapy Clinical Trial
Suggestions of efficacy observed in 25 percent of participants receiving the treatment
Feb 7, 2020
Genetic Testing for Inherited Retinal Diseases through the Foundation’s Open Access Program
The benefits of genetic testing for IRD patients, how to participate in the Foundation’s Open Access program, and what to expect from the genetic testing process.
Jun 17, 2019
The Retina is a Proving Ground for a Broad Range of Neurological Therapies
Retinal research paves the way for new treatments for the entire neurological system.
May 20, 2019
Dr. Don Zack Honored for Research Contributions by ARVO and the Foundation Fighting Blindness
Dr. Zack is a member of the Foundation’s Scientific Advisory Board and chairs its Cellular Molecular Mechanisms of Disease study section.
May 9, 2019
Eye Bonds Re-Introduced to New Congress: Potentially $1 Billion in Government-Backed Funding for Eye Research
Eye Bonds provide the opportunity to advance, and accelerate development for, more promising treatments into and through clinical trials and out to the people who need them.
May 2, 2019
ARVO 2019: Emerging Eloxx Molecules Show Promising Results in Usher Models
Eloxx Pharmaceuticals is developing small molecules that permit read-through of point mutations that cause Usher syndrome 1F and 2A.
Mar 12, 2019
First Patient Receives ProQR’s Emerging USH2A Therapy in Clinical Trial
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
Encouraging Vision Improvements Reported in ReNeuron's Cell-Therapy Clinical Trial
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.
Jan 29, 2019
The Foundation Receives a $100,000 Research Grant from Sofia Sees Hope
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
Pixium's PRIMA Bionic Vision System Restores Central Vision in Dry AMD Clinical Trial
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
ProQR Receives FDA Authorization to Launch Clinical Trial for USH2A Therapy
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
Foundation Invests $2.5 Million in Search for Elusive Retinal Disease Genes and Mutations
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
FFB Congratulates RPE65 Gene Therapy Researchers for Champalimaud Award
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
FFB Provides Four Career Development Awards to Up-and-Coming Clinical Researchers
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
FFB Funding More than $2 Million in New Research
Seventy scientists submitted requests for funding.
Jul 20, 2018
Call to Action: Ask Congress to Support $1 Billion in Eye Research
Call to Action: Ask Congress to Support $1 Billion in Eye Research
Jul 5, 2018
Retinal Regeneration: Releasing Your Inner Salamander
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
VISIONS2018 Live Stream
Watch recorded sessions from VISIONS2018.
May 7, 2018
ARVO 2018: Dr. Henry Klassen Provides Update on jCyte Stem Cell Trials
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
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
May 2, 2018
ARVO 2018: Dr. Steve Rose Reports on CRISPR/Cas9 for Inherited Retinal Diseases
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
ARVO 2018: World's Largest Show and Tell for Innovations in Eye Research
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
Study Suggests Vitamin A May Benefit Children with RP
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
FFB-CRI Investing $7.5 Million in Emerging Therapy for USH2A
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
Clinical Trial to Launch for System Combining Optogenetics and Eyewear
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
Top Retinal Research Advances for 2017
An exciting year in fighting blindness.
Dec 21, 2017
jCyte Reports Results for Phase 1/2a Clinical Trial for Retinal-Cell Treatment
Some participants reported increased light sensitivity, improved color vision, better mobility, and improved reading ability.
Dec 20, 2017
History Is Made: FDA Approves Spark's Vision-Restoring Gene Therapy
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
Stem-Cell Therapy Clinics Remain Inadequately Regulated, Pose Risk to Patients
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
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
The Foundation's Investments Are Filling the Pipeline for Vision-Saving Therapies
In addition to funding promising biotech start-ups, the Foundation Fighting Blindness has played a critical role in developing research talent.
Jul 26, 2017
Scientists Receive $25 Million to Develop a Vision-Restoring System that Connects to the Brain
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
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
FFB-Funded Scientists Report on Nine Promising Translational Research Efforts
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
SparingVision Formed to Advance Sight-Saving Protein for RP
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
Forty-Four High-Impact Retinal-Research Efforts Highlighted at FFB-Casey Innovation Summit
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
FFB Funding Helps Retinal Genetics Lab Secure $2 Million Investment
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
jCyte Stem-Cell Therapy Moves into Phase IIb Clinical Trial for RP
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
FFB-CRI Launching Natural History Study for People with USH2A Mutations
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
Dr. Eliot Berson, Pioneer in Vitamin A Therapy for Retinitis Pigmentosa, Passes Away
Dr. Berson dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades.
Mar 16, 2017
Unregulated Stem-Cell Therapy Causes Severe Vision Loss for Three Florida Women
“…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
AGTC Leverages Funding from the Foundation to Move Promising Treatments into Clinical Trials
Company Builds on FFB’s Initial Investment to Garner $265 Million in Therapy Development Funding
Jan 19, 2017
Foundation Investing in Drug to Slow Many Forms of RP
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.
Dec 21, 2016
FFB-CRI Leads Effort to Identify Outcome Measures for Therapies in Clinical Trials
Improved outcome measures will make clinical trials for degenerative retinal diseases — including age-related macular degeneration (AMD), the world’s leading cause of blindness in seniors, and inherited retinal conditions such as RP and Stargardt disease — less expensive to conduct and able to deliver more precise results.
Dec 19, 2016
A Change in Identity Might Someday Save Vision
By changing the identity of cells in the retina–namely rods–researchers may someday be able to slow or halt vision loss for those with retinitis pigmentosa (RP) and other related conditions.
Oct 18, 2016
Building a Wiring Diagram for the Retina to Help Researchers Save and Restore Vision
Understanding the pathways of the retinal neural network — and how they are rewired with aging and disease — is helpful in trying to save and restore vision.
Oct 11, 2016
Nobel-Prize-Winning Stem-Cell Researcher Delivers Keynote at FFB-Funded Conference in Kyoto
Dr. Shinya Yamanka discussed his early clinical trial for iPSC-derived retinal pigment epithelial (RPE) cells for a 78-year-old woman with advanced wet age-related macular degeneration (AMD).
Oct 6, 2016
Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance
The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging.
Aug 18, 2016
Optogenetic Therapy Takes First Step Forward in Clinical Trial
RetroSense’s optogenetic therapy is designed to restore vision to people who are completely blind from retinal degenerative diseases such as retinitis pigmentosa by bestowing light sensitivity to retinal ganglion cells, which survive after photoreceptors, the cells that make vision possible, are lost.
Aug 2, 2016
Pixium Vision Reports Progress in Development of Two Advanced Bionic Retina Systems
Both approaches show strong, near-term potential for providing meaningful vision to people who are otherwise blind from retinal diseases such as retinitis pigmentosa and age-related macular degeneration (AMD).
Jul 21, 2016
Stem-Cell Therapy for Retinitis Pigmentosa Safe Thus Far in Early Human Study
The trial is one of the first-ever for a stem-cell-derived therapy for RP.
Jul 1, 2016
VISIONS 2016 — Dr. Shomi Bhattacharya Wins FFB Award for Gaining an Understanding of Variations in Vision Loss
At VISIONS 2016, FFB’s national conference, the Foundation honored him with its Ed Gollob Board of Directors Award for breakthrough research conducted within the past year.
Jul 1, 2016
VISIONS 2016 - Dr. Richard Weleber Receives FFB's Highest Research Honor, Recognized in Touching Video
Dr. Weleber became the 10th recipient of the Foundation’s highest honor, named after FFB co-founder Lulie Gund, during the opening lunch of the VISIONS 2016 conference.
Jun 24, 2016
A Steady Hand in Saving Vision
Subretinal injection is the most common form of delivery for gene therapies currently in clinical trials.
Oct 8, 2015
A Leap Forward: Spark Therapeutics Seeks FDA Approval for its Vision-Restoring Gene Therapy
Jun 27, 2015
VISIONS 2015 — Dr. José Sahel Receives Foundation's Most Prestigious Research Honor
For those of us supporting the drive for vision-saving treatments and cures, he’s exactly the type of person we want on our team.
Jun 26, 2015
VISIONS 2015 — Dr. Shannon Boye Receives FFB Award for Excellence in Gene-Therapy Research
Dr. Boye received the Foundation’s Board of Director’s Award, which was presented at VISIONS 2015, FFB’s annual conference, for achievements in retinal research.
May 19, 2015
ARVO 2015 Highlight: The National Eye Institute Invests $4 Million in Audacious-Goals Research
The mission of the program—to regenerate the neurons and neural connections in the eye and visual system—is synonymous with the Foundation’s mission to eradicate retinal diseases.
May 13, 2015
ARVO 2015 Highlight: New Research Boosts Prospects for Saving Vision with RdCVF
After years of refinement and testing in animal models, the emerging therapy is about a year and a half from moving into a clinical trial.
May 12, 2015
ARVO 2015 Highlight: A Cut-and-Paste Approach to Fixing Retinal-Disease Genes
One of the hot topics at ARVO this year is a rapidly advancing gene-therapy approach called clustered regularly interspaced short palindromic repeats, or CRISPR.
Aug 7, 2014
Inspired by Progress in Usher Syndrome Research
Mark Pennesi, M.D., Ph.D., a Foundation-funded clinical researcher at the Casey Eye Institute, discusses the first human study of gene therapy for Usher syndrome type 1B.
Aug 1, 2014
How Evolution is Leading to Gene Therapies for More Retinal Diseases
An innovative genetic-engineering approach called “directed evolution” to find optimal gene-delivery systems based on adeno-associated viruses (AAVs).
Jun 21, 2014
VISIONS 2014 — The Multi-Talented Dr. Shannon Boye
Dr. Boye and her research team received a $900,000 grant for a gene therapy project targeting Leber congenital amaurosis.
Jun 21, 2014
VISIONS 2014 — My Retina Tracker: Track Your Vision and Drive the Research
The powerful and secure system enables patients to keep track of their clinical care and vision changes. At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures.
May 8, 2014
ARVO 2014: European Collaboration Developing Cross-Cutting, Vision-Saving Therapies
Simply put, they’re creating therapies that can save vision in as many people as possible, independent of the genetic cause of disease.
Apr 8, 2014
Total Blindness and Non-24 Sleep Disorder
Non-24 is a very rare condition affecting many (but not all) people who are totally blind and have absolutely no light perception. Their circadian clocks become out of sync as a result.
Mar 20, 2014
UCI Stem-Cell Pioneer Poised to Launch Clinical Trial for RP Patients
Dr. Henry Klassen’s progenitor-based therapy has the potential to rescue a variety of retinal cells — including rods, cones, retinal pigment epithelium and ganglion cells — and, therefore, may save vision in people with a wide range of conditions.
Dec 31, 2013
Nouvelle Lumière: French Bionic Retina in a Human Study
The French retinal implant developer Pixium quietly launched a clinical trial for its Intelligent Retinal Implant System 1 (IRIS1) in France, Austria and Germany.
Nov 5, 2013
Is Acupuncture a Beneficial Treatment for Retinitis Pigmentosa?
Acupuncture definitely has potential benefits, and the breadth of those is being aggressively explored.
Sep 26, 2013
New Imaging Technique May Be Game-Changer for RP Clinical Trials
Known as EZ Width, it holds potential for reducing the time, cost and number of patients needed to determine if a therapy is working in a clinical trial.
Aug 9, 2013
When a Condition is More than a Retinal Disease
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.
Jul 26, 2013
Researchers Move Closer to Getting a Complete Genetic Picture of the Retina
Identifying the genes and proteins that play a major role in retinal health and vision is an important step in finding preventions and cures for degenerative diseases.
Jun 12, 2013
Patient Registries Help Advance Research for Rare Diseases
Many registries enable patients to collect and track information about their health, so they can take an active role in managing their care.
May 10, 2013
Grow Your Own: Harnessing Muller Glia for Retinal Regeneration
There’s hope for retinal regeneration for humans, thanks to Foundation-funded researcher Dr. Thomas Reh, who is investigating how to derive new photoreceptors from retinal cells called Muller glia.
May 7, 2013
Retinal Regeneration is Major Focus of NEI's Audacious Goal
The goal, “to regenerate the neurons and neural connections in the eye and visual system,” is exactly what people with retinal diseases need to save and restore their vision.
Apr 30, 2013
Researcher Revolutionized Fight Against Blindness and Cancer
A profile on Dr. Robert Langer, a medical researcher who has received dozens of awards, accolades and honorary degrees, including, recently, FFB’s Visionary Award.
Apr 17, 2013
A New Therapeutic Trick for Old Dogs
Mar 8, 2013
Staying Alive: Saving Retinal Cells to Preserve Vision
Sometimes, saving vision simply comes down to keeping retinal cells alive, or at least slowing their degeneration.
Feb 18, 2013
History in the Making
More good news about treatments and technological advances for restoring vision for people with retinal diseases.
Jun 19, 2012
Have I Got a Cure for You! Debunking an Alleged Treatment on the Internet
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.
Feb 27, 2023
Rewriting the Narrative as the First Black Deaf-Blind Journalist
Steven McCoy has made history as the first black deaf-blind journalist in the world, as he was recently diagnosed with Usher syndrome after a lifelong struggle with hearing loss. Equipped with a passion for storytelling and advocacy, he now uses his voice to create lasting change within the entertainment industry and deaf-blind community.
Jan 23, 2023
Birding Blind: Identifying Birds by Song
Martha Steele has been birding for over 30 years, but the way in which she birds has changed over time. Martha has Usher syndrome, with her central vision declining rapidly in the early 2000s and receiving her first cochlear implant in 2010. Now she birds entirely by ear and has learned the songs of about 150 bird species.
Jun 20, 2022
Biologist and Father Dedicated to Daughter’s Cure
After Allison’s diagnosis with Usher syndrome type 3, her dad, Jeff Libby, wanted to do everything he could to find her a cure. As a biologist, Jeff started searching for organizations researching blinding diseases like Allison’s, and he found the Foundation Fighting Blindness.
Mar 14, 2022
Advocating for the Foundation Through Professional Outreach
As a longtime supporter and advocate for the Foundation Fighting Blindness, Lora has recently begun working with the Professional Outreach team. Lora’s work helps eye care professionals in the Philadelphia region provide vital resources for their patients with inherited retinal diseases.
May 24, 2021
Girl Scouts are Changing the World One Crosswalk at a Time
Inspired by their troop leader diagnosed with Usher syndrome, Girl Scout Troop 1673 is hoping to change the world, one crosswalk at a time, with their Paint It Yellow challenge.
Apr 26, 2021
Ambitious Swimmer Spreading Optimism
26-year-old Becca is a two-time Paralympic swimmer for Team USA, diagnosed with Usher syndrome type 1 (USH1) at only four years old. But she has never let her diagnosis with Usher syndrome stop her from doing exactly what she puts her mind to.
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).
May 18, 2020
An Artist, First and Foremost
Allen has always wanted to be known as an artist, first and foremost. His photography hints at the ever-changing nature of people’s lives and their environment, much like his own progression with retinitis pigmentosa (RP).
Sep 20, 2019
Blind Miracle on Ice
Shawn was diagnosed with Usher syndrome at a young age. Shawn now stays involved with the blind community and participates in his local blind hockey league. In his own words, he shares his journey at the Toyota-USA Hockey Disabled Hockey Festival.
Jul 29, 2016
Artist with Usher Syndrome Excited to Register on My Retina Tracker to Drive Retinal Research
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
Ready for the Spotlight: Rebecca Alexander Shares Her Story of Living with Usher Syndrome
“…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
Flight4Sight: A Man with Usher Syndrome Travels Around the Globe
There’s nothing like a sense of urgency to turn what seems like a crazy idea into reality.
Dec 2, 2013
An FFB Board Member’s Perspective on Her Experience with Acupuncture
Moira Shea describes her experience with acupuncture.
Apr 10, 2013
Reflections on Life with Usher Syndrome
Foundation Board Member Moira Shea describes her life with a retinal disease.