
A menudo diagnosticada en la niñez o adolescencia, la RP es una enfermedad retiniana hereditaria que causa una pérdida progresiva de la visión nocturna y periférica. La condición a menudo conlleva a una ceguera legal y a veces completa.
Sobre la Enfermedad
La retinitis pigmentaria, también conocida como RP, se refiere a un grupo de enfermedades hereditarias que causan degeneración retiniana. La retina es una delgada pieza de tejido que reviste la parte trasera del ojo. Los fotorreceptores de conos y bastones en la retina convierten la luz en señales eléctricas que el cerebro interpreta como visión. La gente con RP experimenta una disminución gradual en su visión, porque los fotorreceptores se degeneran.
Las formas de RP y enfermedades relacionadas incluyen el síndrome de Usher, Amaurosis congénita de Leber, y el síndrome de Bardet-Biedl, entre otras.
Síntomas
Los síntomas dependen de si se ven involucrados inicialmente los conos o bastones. En la mayoría de las variantes de RP, los bastones son afectados primero. Debido a que los bastones están concentrados en las porciones exteriores de la retina y son activados por luz tenue, su degeneración afecta a la visión periférica y nocturna. La visión se vuelve más oprimida con el pasar del tiempo. Si la enfermedad progresa y los conos se ven afectados, la agudeza visual, percepción de color, y visión central disminuirán.
La ceguera nocturna es uno de los síntomas más tempranos y frecuentes de la RP. Las personas perincipalmente con degeneración de conos, sin embargo, primero experimentan una visión central disminuida y una habilidad reducida para discriminar colores y percibir detalles.
La RP se diagnostica típicamente en niños, adolescentes y adultos jóvenes. Es un desorden progresivo. La tasa de progresión y el grado de pérdida visual varían según la persona. Muchas personas con RP llegan legalmente ciegas a los 40 años, con un campo visual central de menos de 20 grados de diámetro.

Join the My Retina Tracker Registry, the Foundation's database of people and families affected by rare inherited retinal degenerative diseases.
Learn MoreHerencia
Se estima que 100.000 personas en EEUU tienen RP, principalmente causada por mutaciones (variaciones) en un único gen heredado de uno o ambos padres. El gen mutado le da instrucciones incorrectas a las células fotorreceptoras, diciéndoles que hagan una proteína incorrecta, o muy poca o demasiada proteína. (Las células necesitan la cantidad apropiada de proteínas específicas para poder funcionar adecuadamente.) Mutaciones en decenas de genes han sido vinculadas a la RP.
Las mutaciones genéticas pueden pasarse del padre a la descendencia a través de uno de los tres patrones genéticos de herencia: autosomal recesivo, autosomal dominante, o vinculado a X.
En la RP autosomal recesiva, ambos 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, se convertirá en un portador no afectado.
En la RP autosomal dominante, usualmente un padre es afectado y es el único padre con una copia mutada del gen. Un hijo tiene un 50% de probabilidad de verse afectado a través de la herencia de una copia mutada. No se conoce rol alguno de la genética de padres no afectados en la herencia de la enfermedad.
En la RP vinculada a X, el gen mutado de la enfermedad está ubicado en el cromosoma X. Las mujeres tienen dos cromosomas X y pueden portar el gen de la enfermedad en uno de sus cromosomas X. Como tienen una versión saludable del gen en su otro cromosoma X, las portadoras mujeres usualmente no se ven afectadas por las enfermedades vinculadas a X. Los varones sólo tiene un cromosoma X (emparejado con un cromosoma Y) y por lo tanto son genéticamente más susceptibles a enfermedades vinculadas a X. Los varones con enfermedades vinculadas a X pasan su cromosoma Y a sus hijos varones, y por lo tanto nunca pasarán una enfermedad vinculada a X a sus hijos varones. Las portadoras mujeres tienen un 50% de probabilidad (o 1 probabilidad en 2) de pasar el gen de la enfermedad vinculada a X a sus hijas mujeres, las cuales se vuelven portadoras, y un 50% de probabilidad de pasar el gen a sus hijos varones, quienes serán afectados por la enfermedad.
Si un familiar es diagnosticado con RP, a menudo se aconseja que otros miembros de la familia también examinen sus ojos con un médico que esté especialmente entrenado para detectar y tratar desórdenes degenerativos retinianos. Los asesores genéticos son un excelente recurso para hablar sobre heredabilidad, planificación familiar, pruebas genéticas, y otros temas relacionados.
Viviendo con la Enfermedad
Hay muchos servicios y recursos de asistencia y adaptación disponibles para las personas y familias con RP. 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.
Más información sobre cómo manejar RP en la sección Newly Diagnosed de este sitio web.

Strongly consider genetic testing if you have an IRD.
Prueba Genética
Está disponible la prueba genética para RP. Ayuda a evaluar el riesgo de pasar el desorden de un padre a su descendencia. También ayuda a obtener un diagnóstico preciso. Un paciente con un diagnóstico preciso está en mejor posición de entender qué enfoques de tratamiento emergentes y pruebas clínicas son más apropiados para él o ella.

Join the fight and help us accelerate our mission
Next Section
Latest News
-
Jan 29, 2021 The Foundation in the News
Renowned Pioneers in Ophthalmology Join SparingVision’s Scientific Advisory Board
Development of lead asset SPVN06 to further benefit from high-level Clinical Advisory Board
-
Oct 7, 2020 The Foundation in the News
AGTC Joins the My Retina Tracker® Program as a New Scientific Collaborator
-
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.
-
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
-
Aug 4, 2020 Insights Forum
Foundation 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.
-
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.
-
Feb 14, 2020 The Foundation in the News
Unstoppable: With Her “Trusty Guide Shiloh” By Her Side, Janni Lehrer-Stein Travels the World and Advocates for Disability Rights
People with disabilities are no different from anyone else. We all have strengths and challenges, and we all seek to be fully engaged in society. Treating blind people differently, either as incapable of conducting everyday tasks in life, or conversely, acting as though our ability to conduct even the most mundane chore is remarkable can be discouraging.
-
Feb 6, 2020 Insights Forum
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 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.
-
Nov 27, 2019 Press Releases
Foundation Fighting Blindness Launches Natural History Study for People with RP Caused by EYS Gene Mutations
Known as Pro-EYS, the study will help researchers design clinical trials for potential therapies
-
Nov 8, 2019 Insights Forum
Foundation 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.
-
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.
-
Jun 3, 2019 Foundation News
Tackling the Next Gene Therapy Challenge: Autosomal Dominant Diseases
A discussion of strategies concerning the development of autosomal dominant disease therapies at the Translational Research Acceleration Program (TRAP) in November 2013.
-
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
-
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.
-
Jan 9, 2018 The Foundation in the News
A Retinal Research Nonprofit Paves the Way for Commercializing Gene Therapies
AN EMERGING, vision-restoring gene therapy for a devastating retinal disease is poised for Food and Drug Administration (FDA) approval. If it gets the regulatory nod, it will be the first gene therapy to receive FDA approval for the eye or an inherited condition.
Latest Research
-
Jan 1, 2021 Retinal Disease Research Advances
Retinitis Pigmentosa Research Advances
Recent developments in research on retinitis pigmintosa.
-
Nov 18, 2020 Eye On the Cure Research News
AGTC Announces Results for Achromatopsia Gene Therapy Clinical Trials
The company will continue enrolling younger patients in higher dosing groups.
-
Oct 21, 2020 Eye On the Cure Research News
SparingVision Raises €44.5 Million for Gene-Independent RP Therapy
The company is planning a clinical trial for its emerging neuroprotective treatment in 2021
-
Oct 20, 2020 Eye On the Cure Research News
RP Treatment Derived from Induced Pluripotent Stem Cells Advances into Clinical Trial
The stem cells were derived from mature blood cells and coaxed to become photoreceptors
-
Aug 4, 2020 Eye On the Cure Research News
4D Molecular Therapeutics Launches Phase 1 Clinical Trial for Choroideremia Gene Therapy
Gene therapy delivered by intravitreal injection
-
Jul 30, 2020 Eye On the Cure Research News
Researchers Identify Regions in the Retina to Target Therapies for Certain RP Patients
University of Pennsylvania investigators studied retinas of patients and canines with retinitis pigmentosa caused by mild mutations in RHO
-
Jul 27, 2020 Eye On the Cure Research News
jCyte Reports Promising Results for Phase 2b Clinical Trial of its Cellular Therapy for RP
The emerging therapy is designed to work independent of the mutated gene causing vision loss
-
Jul 22, 2020 Eye On the Cure Research News
AGTC Planning Phase 2/3 Clinical Trial for XLRP Gene Therapy
The company is also expanding its Phase ½ trial for the emerging treatment
-
Jul 7, 2020 Eye On the Cure Research News
Biogen Entering into Licensing Agreement with Mass Eye and Ear to Develop PRPF31 Gene Therapy
The goal of the partnership is to advance a PRPF31 gene therapy into a clinical trial
-
Jun 18, 2020 Eye On the Cure Research News
Bionic Sight Doses First Patient in Clinical Trial for Optogenetic Therapy
Treatment combines gene therapy and a device that generates and delivers retinal code
-
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
-
May 13, 2020 Eye On the Cure Research News
jCyte Enters into Licensing Agreement with Santen Pharmaceutical for Cell Therapy
Emerging treatment designed to preserve vision for people with RP and related conditions
-
Feb 27, 2020 Eye On the Cure Research News
Researchers Report Six-Month Results from Biogen-Sponsored XLRP Gene Therapy Clinical Trial
Vision improvements observed with medium and high doses
-
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.
-
Jan 10, 2020 Eye On the Cure Research News
AGTC Reports Positive Six-Month Results for XLRP Phase 1/2 Gene Therapy Trial
The company is planning a Phase 3, pivotal trial for end of 2020
-
Dec 16, 2019 Eye On the Cure Research News
First Patient Receives ProQR’s AON Therapy in Clinical Trial for RP Caused by RHO-P23H Mutation
The trial becomes ProQR’s third human study for inherited retinal disease therapies
-
Nov 15, 2019 Eye On the Cure Research News
FDA Authorizes Stem Cell Clinical Trial for RP in Los Angeles
Phase 1/2a human study will evaluate neural progenitors for preserving vision
-
Nov 7, 2019 Eye On the Cure Research News
AGTC Announces Development of Stargardt Disease Gene Therapy
Dual-vector delivery system designed to deliver the large ABCA4 gene
-
Oct 18, 2019 Eye On the Cure Research News
ReNeuron Reports Interim Results for Eight Patients with RP in Phase 2a Trial for Stem Cell Therapy
The Foundation funded earlier lab studies that made the clinical trial possible.
-
Oct 1, 2019 Eye On the Cure Research News
AGTC Reports Promising Interim Results for XLRP and Achromatopsia Gene Therapy Trials
AGTC used Foundation’s My Retina Tracker registry to recruit patients for trials
-
Aug 14, 2019 Eye On the Cure Research News
ProQR Receives Authorization to Begin Clinical Trial for Autosomal Dominant Retinitis Pigmentosa Treatment
The treatment focuses on the P23H mutation in the RHO gene, which is the most prevalent variant causing adRP in the US and affects approximately 2,500 people.
-
Jul 9, 2019 Eye On the Cure Research News
SparingVision Gets EU Funding Boost for Development of Cross-Cutting Gene Therapy
A clinical trial for the treatment, designed to preserve cone photoreceptors, is planned in the US and Europe in 2020.
-
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.
-
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.
-
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.
-
May 1, 2019 Eye On the Cure Research News
ARVO 2019: Emerging Drug for RP Evaluated in Safety & Tolerability Study
Francois Paquet-Durand, PhD, chief scientific officer at the company Mireca, discusses an emerging drug for retinitis pigmentosa, and other inherited retinal diseases.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
Aug 22, 2018 Eye On the Cure Research News
Ophthotech is Advancing an Impressive Portfolio of Cutting-Edge Therapies for Retinal Diseases
The company is taking on a multi-track strategy that includes retinal gene-therapy development, including delivery of over-sized genes and design of a two-step process of gene knockdown and replacement for autosomal dominant conditions.
-
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.
-
Aug 6, 2018 Eye On the Cure Research News
FFB Funding More than $2 Million in New Research
Seventy scientists submitted requests for funding.
-
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
-
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.
-
Jun 22, 2018 Eye On the Cure Research News
VISIONS2018 Live Stream
Watch recorded sessions from VISIONS2018.
-
May 30, 2018 Eye On the Cure Research News
French Gene Therapy Company Advancing Three Programs for Retinal Diseases
Horama’s gene therapies are injections of healthy copies of a gene underneath the retina to compensate for the defective gene.
-
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.
-
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
-
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.
-
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.
-
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).
-
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.
-
Feb 7, 2018 Eye On the Cure Research News
AGTC Launches XLRP Gene Therapy Clinical Trial at Five Sites in U.S.
Taking place at five locations in the United States, the clinical trial will enroll approximately 15 males with X-linked retinitis pigmentosa caused by mutations in the gene RPGR and will primarily evaluate safety.
-
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.
-
Jan 9, 2018 Eye On the Cure Research News
Top Retinal Research Advances for 2017
An exciting year in fighting blindness.
-
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.
-
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.
-
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.
-
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
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.
-
Aug 30, 2017 Eye On the Cure Research News
MeiraGTx Treats First Patient in XLRP Gene-Therapy Trial
The MeiraGTx gene therapy involves injection of healthy copies of RPGR underneath the retina. The RPGR copies are contained in a human-engineered virus — known as an adeno-associated virus or AAV — designed to readily penetrate retinal cells to deliver the therapeutic genetic cargo.
-
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.
-
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
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 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.
-
Jun 29, 2017 Eye On the Cure Research News
Researchers Find Mutation as Frequent Cause of RP in American Hispanics
The discovery can help genetic experts diagnose more patients with adRP, and it gives researchers a target for developing potential therapies.
-
Jun 1, 2017 Eye On the Cure Research News
Valproic Acid's Effect Too Small in One-Year Clinical Trial
While a therapy for adRP will not emerge from the clinical trial, study investigators advanced development of a new outcome measure known as EZ Area to quickly and accurately evaluate potential therapies for RP in human studies.
-
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.
-
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.
-
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.
-
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.
-
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.
-
Mar 20, 2017 Eye On the Cure Research News
First Patient Treated in XLRP Gene Therapy Clinical Trial
The Nightstar gene therapy involves injection of healthy copies of RPGR underneath the retina.
-
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.”
-
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
-
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.
-
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.
-
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.
-
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.
-
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).
-
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.
-
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.
-
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).
-
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.
-
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.
-
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.
-
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.
-
Oct 8, 2015 Eye On the Cure Research News
A Leap Forward: Spark Therapeutics Seeks FDA Approval for its Vision-Restoring Gene Therapy
-
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.
-
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.
-
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.
-
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.
-
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.
-
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).
-
Jul 18, 2014 Eye On the Cure Research News
Despite Blindness, the Peaches are Sweet in Paran
The story of vision loss in a Peruvian village
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
Oct 30, 2013 Eye On the Cure Research News
Urine Test Helps Diagnose RP Caused by DHDDS Mutations
While it isn’t a substitute for a diagnosis through genetic testing, the urine test can verify that a given DHDDS mutation is, in fact, causing RP.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
Oct 4, 2011 Eye On the Cure Research News
Gene Therapy Revives Cones Long After They Stop Working
A Foundation-funded research group is developing a gene therapy that revives degenerating cones, enabling them to regain their ability to respond to light and provide vision.
Related Resources
-
Feb 22, 2021 Beacon Stories
Managing Your Mindset, Embracing Your Voice
Charity’s recent rapid decline in vision due to RP and her daughter’s diagnosis with RP has caused her to open up about her vision loss journey. After getting involved with the Foundation, Charity now feels like she has a voice to help others in the visually impaired community.
-
Feb 8, 2021 Beacon Stories
Erin’s Unwavering Determination, Then and Now
Diagnosed with retinitis pigmentosa at a very young age, growing up, Erin never let her progressive vision loss stop her from keeping up with her friends and siblings. Throughout the 1990s, Erin was featured in several Foundation Fighting Blindness campaigns to raise funds for retinal research. Today, 34-year-old Erin is resilient as ever, still hopeful research will one day find her a cure.
-
Jan 25, 2021 Beacon Stories
Looking Past RP with Hope
Jenny was diagnosed with retinitis pigmentosa (RP), just like her mom, at the age of 34. In her own words, Jenny shares her experience with being diagnosed with RP and her journey to accepting it with hopefulness.
-
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).
-
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).
-
Mar 9, 2020 Beacon Stories
No Slowing Down for LCA
Braydon was diagnosed with an inherited retinal disease at only two years old. Eight years later, after his mom enrolled him in the My Retina Tracker® Program, Braydon learned his disease was LCA.
-
Jan 13, 2020 Beacon Stories
Charlie Kramer: Singing in the Dark
26-year-old Charlie Kramer is well-known as a professional song leader, songwriter and spiritual leader. But until recently, Charlie didn’t want to openly share his journey with vision loss.
-
Oct 15, 2019 Beacon Stories
Rachel Wants to Raise White Cane Awareness
Rachel Luehrs describes her journey of acceptance.
-
Oct 11, 2019 DIY Campaign Success Stories
The Bergstein’s Are Striking Out Blindness
The Bergstein family has always been passionate about helping the Foundation Fighting Blindness.
-
Sep 6, 2019 Beacon Stories
How Davida Regained Her Speed with Guide Dog Chubb
In honor of National Guide Dog Month this September, Davida is sharing her experience with the Guide Dog Foundation for the Blind and how she found a perfect match in her new guide dog, Chubb.
-
Aug 5, 2019 Beacon Stories
Hannah Dreams Big Despite Vision Loss
Hannah has always had dreams of starting her own fashion line. And despite being diagnosed with retinitis pigmentosa at the age of 15, she recently began an intimate company, Watson & Wilma.
-
Jul 10, 2019 Beacon Stories
My Retina Tracker, My Story
Susan, who has retinitis pigmentosa, went through many tests in search of learning more about her eye disease. Once she enrolled in the My Retina Tracker® (MRT) testing program, Susan was provided with comprehensive results and a clear diagnosis, giving her clarity and hope.
-
Jun 17, 2019 Beacon Stories
Jack Sees a Different Life after LUXTURNA
Jack Hogan was diagnosed with retinitis pigmentosa at only two-and-a-half years old. But with the help of connections made with the Foundation, Jack became the first-ever recipient of the FDA-approved gene therapy known as LUXTURNA.
-
Jun 3, 2019 Beacon Stories
Original Foundation Advocate Gertrude Weiss Celebrates 100th Birthday
Gertrude Weiss was one of the early Foundation Fighting Blindness investors and advocates. Diagnosed with retinitis pigmentosa, Gertrude continues to live her life to the fullest. As a longtime friend, the Foundation honored Gertrude on her 100th birthday recently.
-
May 20, 2019 Beacon Stories
What Does “Blindness” Really Mean?
Jenny Schisler has retinitis pigmentosa. Jenny wants to spread awareness of what having a visual impairment really means to her and others affected by retinal degenerative diseases.
-
Apr 26, 2019 Beacon Stories
Legally Blind Artist Paul Castle Expresses His Story through Art
Paul Castle was diagnosed with X-linked retinitis pigmentosa at the age of 16, but continued to follow his passion for art. Now Paul is a full-time artist and donates 5 percent of his art sales to the Foundation.
-
Jul 27, 2018 Beacon Stories
Persevering to Success with the Support of Family, Friends, and Faith
A story about living with retinitis pigmentosa.
-
Dec 17, 2017 Beacon Stories
Faith, Hope, and a Found Gene
“I try not to get my hopes up too much, but I never lose hope; I’m determined. I just want to see my son’s face, see him get married, & see my grandchildren. I encourage everyone with a retinal disease to get a genetic test & to never ever give up hope.“
-
Apr 15, 2015 Beacon Stories
A Renaissance Man with Vision
An interview with Louis Posen, record label founder and retinitis pigmentosa patient.
-
Jun 26, 2014 Beacon Stories
Lighting a Candle: The Author of a New Memoir Shares the Highs and Lows of Vision Loss
Nicole Simpson, author of “Now I See You,” shares her experience with retinitis pigmentosa.
-
Sep 6, 2013 Beacon Stories
Alice Bartlett – Back on That Horse
His name is Battle. He’s an Arabian, stands more than 15 hands (or 5 feet) tall and weighs 1,000 pounds. He’s been with Alice Bartlett since his birth 26 years ago, and she’s been riding him since he was 2.
Alice, by the way, is legally blind.
-
-
Mar 22, 2013 Beacon Stories
What Losing Vision Has Taught Me
Author Shawn Maloney describes his journey with RP.
-
Apr 12, 2012 Beacon Stories
Making Memories
The parents of young children affected by retinal diseases walk a fine line – between making the best of a trying situation and preparing for the worst.
-
Mar 19, 2012 Beacon Stories
His Mother's Son
When it comes to describing Eric Fulton, “gregarious” is a more-than-appropriate adjective for the husband and father of two who, fittingly, is also communications manager at the Bethesda-based Clark Construction Group. “It comes naturally to me,” he says of his ability to mix it up with people. “The cause makes it easier. But, otherwise, I’m pretty outgoing; I like to talk to people. It’s what I do.”