
A menudo diagnosticado en la niñez o adolescencia, el síndrome de Usher es una enfermedad hereditaria que causa una combinación de pérdida de audición y visión de la retinitis pigmentaria. La condición también puede causar problemas con el equilibrio.
Sobre la enfermedad
El síndrome de Usher es una condición hereditaria caracterizada por la pérdida progresiva de audición y visión. El equilibrio también puede verse afectado. Los síntomas y la progresión de la enfermedad varían según la persona.
La pérdida de visión es debido a la retinitis pigmentaria (RP), una condición degenerativa de la retina, y usualmente aparece durante la niñez, adolescencia o adultez temprana. La retina es una delgada capa de tejido alineada con la parte anterior del ojo, compuesta de células fotorreceptoras sensibles a la luz. Estas células, también conocidas como conos y bastones, son responsables de convertir la luz en señales eléctricas que el cerebro interpreta como visión.
La pérdida de audición en el síndrome de Usher ocurre porque las mutaciones genéticas que afectan a la retina también afectan a la cóclea, una estructura transmisora de sonido del oído interno.
Los investigadores estiman que unas 25.000 personas en EEUU tienen síndrome de Usher. A nivel mundial, es la principal causa de ceguera y sordera combinadas. Alrededor del 30% de las personas con RP informan algún grado de pérdida de audición, y alrededor de la mitad de ellos son diagnosticados con síndrome de Usher.
Síntomas
Hay tres categorías generales de síndrome de Usher. Las personas con el síndrome de Usher tipo 1 (USH1) usualmente nacen con una grave pérdida auditiva y experimentan problemas con el equilibrio. Las primeras señales de RP, ceguera nocturna y pérdida de visión periférica, usualmente aparecen en la adolescencia temprana.
En el síndrome de Usher tipo 2 (USH2), los recién nacidos tienen una deficiencia auditiva de moderada a grave. Los síntomas o la RP típicamente comienzan poco después de la adolescencia. Los problemas visuales progresan más lento que los del Usher tipo 1, y la pérdida de audición usualmente se mantiene estable.
Un tercer tipo más raro de síndrome de Usher (USH3) fue documentado en 1995. Los niños con USH3 usualmente nacen con una audición buena o sólo con deterioro cognitivo leve. Su pérdida de audición y visión es progresiva, comenzando alrededor de la pubertad. El equilibrio también puede verse afectado.
El síndrome de Usher es nuevamente subdividido en tipos, basados en el gen mutado que causa el desorden. Por ejemplo, las personas con síndrome de Usher tipo 1B tienen mutaciones en el gen MYO7A.
Herencia
El síndrome de Usher es pasado de los padres a su descendencia a través de un patrón autosomal recesivo de herencia. En una enfermedad autosomal recesiva, ambod padres portan una copia del gen mutado y una copia normal, pero no tienen síntomas. Por lo tanto se los llama portadores no afectados. Cada uno de sus hijos tiene un 25% de probabilidad de verse afectado por la herencia de una copia mutada de cada padre. Si el hijo hereda una copia mutada de un padre, será un portador no afectado.
Viviendo con síndrome de Usher
Hay muchos servicios y recursos de asistencia y adaptación disponibles para las personas y familias con síndrome de Usher. Visita las páginas Living and Thriving de la Fundación para aprender sobre muchos de estos recursos. Un especialista en visión baja puede ayudar a recomendar los recursos que son adecuados para ti.
Prueba genética
Hay disponible una prueba genética para ayudar a las personas a diagnosticar definitivamente su condición y el riesgo de otros familiares o de la futura descendencia de verse afectados. Un diagnóstico genético también puede ayudar a una persona a calificar para una prueba clínica. Los asesores genéticos son un excelente recurso para hablar sobre heredabilidad, planificación familiar, pruebas genéticas, y otros temas relacionados.
Pruebas de investigación y clínica
Para más información sobre pruebas de investigación y clínicas para el síndrome de Usher, dirígete a la publicación de la Fundación síndrome de Usher: Avances en investigación.
Vea una lista de ensayos clínicos actuales, muchos posibles gracias al apoyo de la Fundación.
Next Section
Latest News
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Sep 24, 2020 Press Releases
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 Press Releases
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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Aug 4, 2020 Insights Forum
Fighting Blindness Insights Forum – July 30, 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 July 30, 2020.
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Mar 31, 2020 Foundation News
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 Insights Forum
Fighting Blindness 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.
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Feb 6, 2020 Press Releases
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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Nov 8, 2019 Insights Forum
Fighting Blindness Insights Forum – October 30, 2019
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 October 30, 2019.
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Oct 2, 2019 Press Releases
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 News
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 Press Releases
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 Press Releases
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 Press Releases
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.
Latest Research
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Sep 18, 2020 Retinal Disease Research Advances
Usher Syndrome Research Advances
Recent developments in research on Usher Syndrome.
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Aug 3, 2020 Eye On the Cure Research News
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.
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May 21, 2020 Eye On the Cure Research News
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
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May 4, 2020 Eye On the Cure Research News
#GivingTuesdayNow Featured Researcher Dr. Shannon Boye
A Lifelong Science Nerd is Winning the Fight Against Blindness
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Apr 1, 2020 Eye On the Cure Research News
Interim Results Released for USH2A RNA Therapy Clinical Trial
Suggestions of efficacy observed in 25 percent of participants receiving the treatment
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Feb 7, 2020 Science Education
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.
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Jun 17, 2019 Science Education
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.
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May 20, 2019 Eye On the Cure Research News
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.
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May 9, 2019 Eye On the Cure Research News
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.
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May 2, 2019 Eye On the Cure Research News
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.
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Mar 12, 2019 Eye On the Cure Research News
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.
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Feb 21, 2019 Eye On the Cure Research News
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.
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Jan 29, 2019 Eye On the Cure Research News
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.
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Jan 17, 2019 Eye On the Cure Research News
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.
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Dec 4, 2018 Eye On the Cure Research News
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.
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Nov 2, 2018 Eye On the Cure Research News
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.
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Sep 11, 2018 Eye On the Cure Research News
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.
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Aug 15, 2018 Eye On the Cure Research News
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.
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Aug 6, 2018 Eye On the Cure Research News
FFB Funding More than $2 Million in New Research
Seventy scientists submitted requests for funding.
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Jul 20, 2018 Eye On the Cure Research News
Call to Action: Ask Congress to Support $1 Billion in Eye Research
Call to Action: Ask Congress to Support $1 Billion in Eye Research
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Jul 5, 2018 Eye On the Cure Research News
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.
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Jun 22, 2018 Eye On the Cure Research News
VISIONS2018 Live Stream
Watch recorded sessions from VISIONS2018.
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May 7, 2018 Eye On the Cure Research News
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.
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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
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
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May 2, 2018 Eye On the Cure Research News
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.
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Apr 25, 2018 Eye On the Cure Research News
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.
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Apr 9, 2018 Eye On the Cure Research News
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).
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Feb 14, 2018 Eye On the Cure Research News
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.
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Jan 17, 2018 Eye On the Cure Research News
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.
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Jan 9, 2018 Eye On the Cure Research News
Top Retinal Research Advances for 2017
An exciting year in fighting blindness.
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Dec 21, 2017 Eye On the Cure Research News
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.
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Dec 20, 2017 Eye On the Cure Research News
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.
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Nov 21, 2017 Eye On the Cure Research News
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.
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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.
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Sep 27, 2017 Eye On the Cure Research News
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.
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Jul 26, 2017 Eye On the Cure Research News
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.
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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.
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Jul 24, 2017 Eye On the Cure Research News
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.
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Jul 12, 2017 Eye On the Cure Research News
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.
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May 23, 2017 Eye On the Cure Research News
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.
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May 8, 2017 Eye On the Cure Research News
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.
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Apr 28, 2017 Eye On the Cure Research News
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.
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Apr 4, 2017 Eye On the Cure Research News
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.
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Mar 22, 2017 Eye On the Cure Research News
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.
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Mar 16, 2017 Eye On the Cure Research News
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.”
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Feb 17, 2017 Eye On the Cure Research News
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
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Jan 19, 2017 Eye On the Cure Research News
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.
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Dec 21, 2016 Eye On the Cure Research News
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.
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Dec 19, 2016 Eye On the Cure Research News
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.
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Oct 18, 2016 Eye On the Cure Research News
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.
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Oct 11, 2016 Eye On the Cure Research News
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).
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Oct 6, 2016 Eye On the Cure Research News
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.
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Aug 18, 2016 Eye On the Cure Research News
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.
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Aug 2, 2016 Eye On the Cure Research News
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).
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Jul 21, 2016 Eye On the Cure Research News
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.
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Jul 1, 2016 Eye On the Cure Research News
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.
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Jul 1, 2016 Eye On the Cure Research News
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.
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Jun 24, 2016 Eye On the Cure Research News
A Steady Hand in Saving Vision
Subretinal injection is the most common form of delivery for gene therapies currently in clinical trials.
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Oct 8, 2015 Eye On the Cure Research News
A Leap Forward: Spark Therapeutics Seeks FDA Approval for its Vision-Restoring Gene Therapy
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Jun 27, 2015 Eye On the Cure Research News
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.
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Jun 26, 2015 Eye On the Cure Research News
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.
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May 19, 2015 Eye On the Cure Research News
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.
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May 13, 2015 Eye On the Cure Research News
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.
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May 12, 2015 Eye On the Cure Research News
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.
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Aug 7, 2014 Eye On the Cure Research News
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.
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Aug 1, 2014 Eye On the Cure Research News
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).
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Jun 21, 2014 Eye On the Cure Research News
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.
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Jun 21, 2014 Eye On the Cure Research News
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.
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May 8, 2014 Eye On the Cure Research News
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.
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Apr 8, 2014 Eye On the Cure Research News
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.
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Mar 20, 2014 Eye On the Cure Research News
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.
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Dec 31, 2013 Eye On the Cure Research News
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.
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Nov 5, 2013 Eye On the Cure Research News
Is Acupuncture a Beneficial Treatment for Retinitis Pigmentosa?
Acupuncture definitely has potential benefits, and the breadth of those is being aggressively explored.
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Sep 26, 2013 Eye On the Cure Research News
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.
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Aug 9, 2013 Science Education
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.
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Jul 26, 2013 Eye On the Cure Research News
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.
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Jun 12, 2013 Eye On the Cure Research News
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.
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May 10, 2013 Eye On the Cure Research News
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.
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May 7, 2013 Eye On the Cure Research News
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.
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Apr 30, 2013 Eye On the Cure Research News
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.
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Mar 8, 2013 Science Education
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.
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Feb 18, 2013 Eye On the Cure Research News
History in the Making
More good news about treatments and technological advances for restoring vision for people with retinal diseases.
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Jun 19, 2012 Eye On the Cure Research News
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.
Related Resources
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Jan 11, 2021 Beacon Stories
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.
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Sep 25, 2020 Partner News
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).
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May 18, 2020 Beacon Stories
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).
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Sep 20, 2019 Beacon Stories
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.
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Jul 29, 2016 Beacon Stories
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.
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Sep 10, 2014 Beacon Stories
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.”
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Apr 21, 2014 Beacon Stories
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.
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Dec 2, 2013 Beacon Stories
An FFB Board Member’s Perspective on Her Experience with Acupuncture
Moira Shea describes her experience with acupuncture.
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Apr 10, 2013 Beacon Stories
Reflections on Life with Usher Syndrome
Foundation Board Member Moira Shea describes her life with a retinal disease.