
Amaurosis congénita de Leber (LCA)
La LCA es un grupo de enfermedades retinianas hereditarias que causan ceguera o una pérdida de visión grave en la niñez temprana.
Sobre la enfermedad
La amaurosis congénita de Leber (LCA) es un grupo de enfermedades retinianas hereditarias caracterizadas por una grave discapacidad en la visión o ceguera al nacer. Algunos expertos en retina consideran a la LCA como una variante grave de la retinitis pigmentaria (RP). La condición es causada por la degeneración y/o disfunción de los fotorreceptores, las células en la retina que hacen posible la visión. Los fotorreceptores capturan la luz, convirtiéndola en señales eléctricas que son enviadas a la parte anterior del cerebro para crear las imágenes que vemos. Las mutaciones en uno de más de dos decenas de genes pueden causar LCA.
Síntomas
A menudo, dentro de los primeros meses de vida de un infante afectado, los padres advierten una falta de capacidad de respuesta visual movimientos oculares erráticos, conocidos como nistagmo. Las examinaciones oculares de infantes con LCA a veces revelan retinas de apariencia normal. En otros casos, se observan numerosas anormalidades. De cualquier forma, un electroretinograma (ERG), el cual mide la funcionalidad retiniana, detecta poca hactividad, si la hubiera, en la retina. Las pruebas de ERG a menudo son esenciales para establecer un diagnóstico de LCA. Una prueba genética a menudo puede proveer un diagnóstico definitivo.
Muchos niños con LCA habitualmente presionan sus ojos con sus puños o dedos. Esta presión habitual en los ojos se conoce clínicamente como reflejo oculodigital. Los ojos de los individuos con LCA también pueden verse hundidos o profundos. El queratocono (forma de cono en el frente del ojo) y las cataratas (nubosidad en la lente por la que pasa la luz) pueden suceder con esta enfermedad.
En algunos casos, otros sistemas del cuerpo (por ejemplo, los riñones) pueden verse afectados por los defectos genéticos que causan la LCA.
Herencia
La LCA es casi siempre pasada a través del patrón autosomal recesivo de herencia. En este tipo de herencia, ambos padres, llamados portadores, tienen una copia mutada del gen y una copia normal. Son portadores no afectados de LCA. Cada uno de sus hijos tiene un 25% de probabilidad de heredar las dos copias genéticas de la LCA (una de cada padre) necesarias para causar el desorden.
Viviendo con LC
Hay muchos servicios y recursos de asistencia y adaptación disponibles para las personas y familias con LCA. Visita las páginas Low Vision Resources 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 la LCA en la sección Recién diagnosticados de este sitio web.
Prueba genética
Está disponible la prueba genética para LCA, y ayuda a obtener un diagnóstico preciso. Un paciente y su familia con un diagnóstico genético están en mejor posición de entender qué enfoques de tratamiento emergentes y pruebas clínicas son más apropiadas para ellos.
Tratamientos
En diciembre de 2017, la biotecnóloga Spark Therapeutics obtuvo la aprobación de la U.S. Food and Drug Administration para LUXTURNA™, una terapia del gen RPE65 que ha mejorado la visión en niños y adultos jóvenes con mutaciones de RPE65. La financiación temprana de la Fundación ayudó a hacer posible este tratamiento. Los tratamientos para formas de LCA causadas por otros genes mutados están en los planes actuales de desarrollo.
Pruebas de investigación y clínicas
Para ver los últimos avances en investigación para LCA, dirígete a la publicación de la Fundación: Amaurosis congénita de Leber: Avances en investigación.
Vea una lista de ensayos clínicos actuales, muchos posibles gracias al apoyo de la Fundación.
Next Section
Read the Most Recent Research on Amaurosis congénita de Leber (LCA)
Latest News
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Mar 12, 2020
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Feb 6, 2020
Foundation Insights Forum – January 31, 2020
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Feb 6, 2020
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Nov 8, 2019
Foundation Insights Forum – October 30, 2019
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Oct 2, 2019
Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States
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Aug 16, 2019
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Jul 19, 2018
Foundation Fighting Blindness Urges Congress to Pass ‘Eye-Bonds’ Legislation
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Jun 8, 2018
Foundation Fighting Blindness and CheckedUp® Partner to Educate Retinal-Disease Patients About Research, Resources, and Emerging Therapies During Doctor Visits
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Jan 9, 2018
A Retinal Research Nonprofit Paves the Way for Commercializing Gene Therapies
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Latest Research
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Sep 26, 2023
Leber Congenital Amaurosis Research Advances
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Sep 7, 2023
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Jun 29, 2023
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The five-year grant will advance the emerging treatments toward clinical trials
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May 1, 2023
Eric Pierce Receives Proctor Medal for Outstanding Achievements in Retinal Research
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Dec 2, 2022
Opus Genetics to Launch Gene Therapy Clinical Trial for LCA5 Patients
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Nov 18, 2022
Editas Reports Results for 14 Participants in its Phase 1/2 CRISPR/Cas9 Clinical Trial for LCA10
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Oct 3, 2022
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Aug 11, 2022
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May 19, 2022
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Feb 15, 2022
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Sep 30, 2021
Vision Improvements Reported for Two LCA 10 Patients in Phase 1/2 Clinical Trial for Editas’ CRISPR/Cas9 Treatment
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Apr 12, 2021
Encouraging Early Report for Three Patients in LCA1-GUCY2D Gene Therapy Clinical Trial
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Jan 13, 2021
ProQR Completes Enrollment in Phase 2/3 Clinical Trial of RNA Therapy for LCA10
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Aug 3, 2020
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Mar 5, 2020
First Patient Receives Emerging CRISPR Therapy in Clinical Trial for LCA 10
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Mar 5, 2020
ARVO 2014: LCA Gene Therapy Recipient Featured During Keynote
15-year-old Yannick Duwe transfixed the audience, describing how the treatment enabled him to use a computer instead of Braille, and work much easier and faster at school.
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Dec 11, 2019
Families and Scientists Meet to Discuss Therapy Development for People with RDH12 Mutations
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Jul 25, 2019
Allergan and Editas Begin Recruiting for CRISPR/Cas9 Clinical Trial for LCA10
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Jun 17, 2019
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May 20, 2019
Dr. Don Zack Honored for Research Contributions by ARVO and the Foundation Fighting Blindness
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May 9, 2019
Eye Bonds Re-Introduced to New Congress: Potentially $1 Billion in Government-Backed Funding for Eye Research
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Apr 16, 2019
First Patient Receives AON Therapy for LCA10 in ProQR’s Phase 2/3 Clinical Trial
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Jan 29, 2019
The Foundation Receives a $100,000 Research Grant from Sofia Sees Hope
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Jan 17, 2019
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Dec 7, 2018
FDA Authorizes Clinical Trial for CRISPR/Cas9 Therapy for LCA 10
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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.
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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.
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Sep 5, 2018
Vision Improvements Reported in ProQR's Clinical Trial for LCA10 Treatment
The company reported that 60 percent of subjects in the trial demonstrated improvements in visual acuity and their ability to navigate a mobility course. The treatment was also safe for patients.
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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.
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Aug 6, 2018
FFB Funding More than $2 Million in New Research
Seventy scientists submitted requests for funding.
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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
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Jul 5, 2018
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Jun 22, 2018
VISIONS2018 Live Stream
Watch recorded sessions from VISIONS2018.
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May 30, 2018
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.
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May 3, 2018
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
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May 2, 2018
ARVO 2018: Dr. Steve Rose Reports on CRISPR/Cas9 for Inherited Retinal Diseases
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Apr 30, 2018
ARVO 2018: Dr. Shannon Boye Reports on her Emerging Gene Therapy for LCA (GUCY2D)
Shannon Boye, PhD, University of Florida, talks about the advancement of her of gene therapy for Leber congenital amaurosis toward a clinical trial.
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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.
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Mar 7, 2018
Natural History Study Launches for LCA Caused by Specific Mutation in CEP290
The natural history study will be used to characterize the range of visual function in patients, to evaluate which visual tests may be the most useful for patients with this condition, and to determine the rate of change in visual function over a one-year period.
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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.
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Jan 9, 2018
Top Retinal Research Advances for 2017
An exciting year in fighting blindness.
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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.
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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.
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Nov 15, 2017
ProQR Doses First Participant in Its LCA10 Therapy Clinical Trial
The company plans to report interim, six-month study results in 2018 and 12-month results in 2019.
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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.
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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.
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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.
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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.
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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.
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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.
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May 16, 2017
Clinical Trial Authorized in the U.S. for Emerging LCA 10 Therapy
ProQR, a biotechnology company in the Netherlands, has received authorization from the U.S. Food and Drug Administration to start a Phase I/II clinical trial for its therapy known as QR-110
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May 8, 2017
FFB Funding Helps Retinal Genetics Lab Secure $2 Million Investment
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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.
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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.”
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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
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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.
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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.
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Oct 11, 2016
Nobel-Prize-Winning Stem-Cell Researcher Delivers Keynote at FFB-Funded Conference in Kyoto
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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.
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Sep 6, 2016
Researchers Identify Canine Model of LCA (NPHP5) — Pursue Gene Therapy
The investigators found that in canines, the retinal degeneration is remarkably similar to that in humans with NPHP5 mutations.
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Aug 18, 2016
Optogenetic Therapy Takes First Step Forward in Clinical Trial
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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).
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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.
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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.
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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.
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Oct 8, 2015
A Leap Forward: Spark Therapeutics Seeks FDA Approval for its Vision-Restoring Gene Therapy
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Feb 18, 2013
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
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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Apr 11, 2022
“The Only Disability is a Bad Attitude”
Born with LCA, Anthony began wrestling in the seventh grade, continued through high school, and eventually became the subject of a documentary about his life as a blind wrestler. He then received a life-changing call from the United States Olympics Committee, asking him to compete on the Paralympic Judo Team.
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Nov 15, 2021
Livie’s “New Eyes”
At the age of five, Livie was diagnosed with LCA but her doctor immediately told her parents that clinical trials were underway and that Livie could soon be eligible for treatment. Not long after, they got a phone call from Spark Therapeutics and Livie received LUXTURNA®. Now eight, Livie’s confidence is at an all-time high with her “new eyes.”
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Dec 21, 2020
Hannah’s Bright Future Ahead
At seven years old, Hannah had never seen a lightning bug in the summer or a star in the sky. But after her treatment with LUXTURNA, Hannah can now play outside at night with her brothers and has a new bright future in store.
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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).
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Mar 9, 2020
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.
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Dec 17, 2019
Ashlyn Experiences Joy in Day-To-Day Life After Sight Is Restored
Ashlyn’s vision was restored following her treatment with the LUXTURNA gene therapy.
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Jul 22, 2019
Kailey’s Story of Hope
13 year old Kailey Reichardt’s personal essay about her little sister Ashlyn, who was diagnosed with Leber congenital amarosis (LCA) at a young age. Kailey is a Beacon for other siblings impacted and going through similar situations.
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Oct 16, 2018
A Boy with No Boundaries
Kai Wang was 18 months old when he was diagnosed with the condition. His parents never imagined the extraordinary journey they would take with their son when they learned he had a condition that would render him blind.
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Aug 7, 2017
Sight and Song: The Christian Guardino Story
Christian Guardino has been singing for as long as he can remember; it’s the seeing that is something new.
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Oct 14, 2014
Changing Someone’s Life: A New Video Emphasizes the Need to Support FFB’s Mission
Allison Corona is one of 40 people with Leber congenital amaurosis who’ve benefitted from a gene therapy clinical trial.
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Dec 18, 2012
Curing Blindness, Part 1: Corey’s Story
How gene therapy restored some of a boy’s sight.