Síndrome de Bardet-Biedl (BBS)
A menudo diagnosticado en la niñez o la adolescencia, el BBS es una enfermedad hereditaria que causa una pérdida progresiva de las visiones periférica y nocturna de la retinitis pigmentaria. El BBS también puede causar una serie de otros síntomas y problemas que incluyen: obesidad, dedos adicionales, enfermedades renales, y discapacidades madurativas. Los síntomas varían según la persona.
¿Qué es e síndrome de Bardet-Biedl?
El síndrome de Bardet-Biedl (BBS) es un desorden complejo que afecta a muchas partes del cuerpo, incluyendo la retina. Los individuos con este síndrome tienen una degeneración retiniana similar a la de la retinitis pigmentaria (RP).
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. Las personas con RP vinculada a BBS experimentan una disminución gradual en su visión, porque los fotorreceptores se degeneran.
¿Cuáles son los síntomas?
El diagnóstico del síndrome de Bardet-Biedl a menudo es confirmado en la niñez, cuando los problemas visuales debido a la RP son descubiertos. El primer síntoma de RP es la ceguera nocturna. La ceguera nocturna dificulta la visión a niveles de luz baja.
RP luego causa una pérdida progresiva de la visión periférica. La pérdida de visión periférica a menudo es referida como visión tubular. Los individuos con Bardet-Biedl también pueden experimentar pérdida de visión central durante la niñez o la adolescencia.
Además de la RP, la polidactilia (dedos adicionales en manos y/o pies) y la obesidad son características que definen al síndrome de Bardet-Biedl. La condición es usualmente sospechada por primera vez cuando un niño nace con polidactilia. Los síntomas subsecuentes de la RP obesidad confirman el diagnóstico. Los dedos adicionales usualmente son removidos en la infancia o la niñez temprana. La fusión de dedos de las manos o pies (piel adicional) también es común. La mayoría de los individuos también tienen pies cortos y angostos. La obesidad puede presentarse en la niñez y usualmente está limitada al tronco del cuerpo. Muchos individuos también son más bajos que el promedio.
Cerca de la mitad de los individuos con síndrome de Bardet-Biedl experimentan discapacidades de desarrollo, desde deterioro cognitivo leve o desarrollo emocional retrasado hasta discapacidad intelectual. El grado de discapacidad intelectual puede ir desde una discapacidad cognitiva leve hasta una discapacidad intelectual severa. Los individuos también pueden experimentar enfermedades renales (riñones). Las anormalidades renales pueden afectar a la estructura y funcionamiento de los riñones y puede conllevar a un deterioro renal grave.
Cómo se hereda la enfermedad
El síndrome de Bardet-Biedl es pasado genéticamente a través de las familias por el patrón recesivo autosomal de herencia del síndrome de Bardet-Biedl. En este tipo de herencia, ambos padres, llamados portadores, tienen un gen para el síndrome emparejado con un gen normal. Cada uno de sus hijos tiene entonces una probabilidad del 25% (o de 1 en 4) de heredar los dos genes de Bardet-Biedl (uno de cada padre) necesarios para causar el desorden. Los portadores no se ven afectados porque solo tienen una copia del gen. Los investigadores han identificado 18 genes, que al mutarse, pueden causar BBS.
Viviendo con BBS
Hay muchos servicios y recursos de asistencia y adaptación disponibles para las personas y familias con BBS. 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 o tu ser querido.
Más información sobre administración de RP vinculada a BBS en al sección Recién Diagnosticados de este sitio web.
La evaluación genética está disponible para el BBS. Ayuda a obtener un diagnóstico preciso. También ayuda a evaluar el riesgo de pasar el desorden de un padre a su descendencia. Un paciente con un diagnóstico preciso está en mejor posición de entender qué enfoques de tratamiento emergentes y pruebas clínicas son más apropiadas para él o ella.
Investigación y pruebas clínicas
Vea una lista de ensayos clínicos actuales, muchos posibles gracias al apoyo de la Fundación.
Página del síndrome de Bardet-Biedl en www.ClinicalTrials.gov.
Read the Most Recent Research on Síndrome de Bardet-Biedl (BBS)
Aug 21, 2020
Foundation Fighting Blindness Commits $6.5 Million for New Retinal Disease Research Grants
New grants include development of CRISPR/Cas9 gene-editing treatments, new disease models, and a retinal regeneration therapy
Mar 31, 2020
The Foundation Fighting Blindness is closely monitoring the COVID-19 situation and its impact on the IRD community.
Feb 6, 2020
Foundation Insights Forum – January 31, 2020
The Foundation Fighting Blindness is pleased to provide an audio recording and full transcripts of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on January 31, 2020.
Feb 6, 2020
ProQR Therapeutics Teams Up with the Foundation Fighting Blindness and Blueprint Genetics to Support the My Retina Tracker® Program for People Living with Inherited Retinal Diseases
My Retina Tracker Program is the highest volume IRD genetic testing program in the U.S.
Nov 8, 2019
Foundation Insights Forum – October 30, 2019
The Foundation Fighting Blindness is pleased to provide an audio recording and full transcript of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on October 30, 2019.
Oct 2, 2019
Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States
The program will offer patients with inherited retinal disease no-cost genetic testing and genetic counseling in the United States. Look for updated information on how to participate to be posted in mid-October, with program registration starting shortly thereafter.
Aug 16, 2019
Foundation Fighting Blindness Investing Nearly $6.5 Million in New Grants
The newly funded research efforts include several therapies that have strong potential to treat a wide range of inherited retinal diseases.
May 9, 2019
Foundation Fighting Blindness Endorses 'Eye Bonds' Legislation
Bipartisan Bill Will Stimulate Up to $1 Billion in New Funding for Blindness Research
Jul 19, 2018
Foundation Fighting Blindness Urges Congress to Pass ‘Eye-Bonds’ Legislation
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
Jun 8, 2018
Foundation Fighting Blindness and CheckedUp® Partner to Educate Retinal-Disease Patients About Research, Resources, and Emerging Therapies During Doctor Visits
The Foundation Fighting Blindness (the Foundation) and CheckedUp have formed a collaborative partnership to deliver patient-friendly diagnostic and disease-management information to people with retinal diseases such as age-related macular degeneration, retinitis pigmentosa, and Stargardt disease during their visits to eye doctors.
Jun 20, 2022
Rhythm Pharmaceuticals Receives FDA Approval for Drug to Control Obesity in People with Bardet-Biedl Syndrome (BBS)
The newly approved drug reduces the pathologic hunger associated with BBS
Feb 7, 2020
Genetic Testing for Inherited Retinal Diseases through the Foundation’s Open Access Program
The benefits of genetic testing for IRD patients, how to participate in the Foundation’s Open Access program, and what to expect from the genetic testing process.
Jun 17, 2019
The Retina is a Proving Ground for a Broad Range of Neurological Therapies
Retinal research paves the way for new treatments for the entire neurological system.
May 20, 2019
Dr. Don Zack Honored for Research Contributions by ARVO and the Foundation Fighting Blindness
Dr. Zack is a member of the Foundation’s Scientific Advisory Board and chairs its Cellular Molecular Mechanisms of Disease study section.
May 9, 2019
Eye Bonds Re-Introduced to New Congress: Potentially $1 Billion in Government-Backed Funding for Eye Research
Eye Bonds provide the opportunity to advance, and accelerate development for, more promising treatments into and through clinical trials and out to the people who need them.
Feb 21, 2019
Encouraging Vision Improvements Reported in ReNeuron's Cell-Therapy Clinical Trial
ReNeuron, a cellular therapy developer in the UK, has reported vision improvements in the treated eyes of the first three retinitis pigmentosa (RP) patients in the Phase II part of the Phase I/II clinical trial for its proprietary human retinal progenitor cells (hRPC). The Phase I portion of the trial, completed last year, primarily assessed safety in subjects with minimal remaining vision.
Jan 29, 2019
The Foundation Receives a $100,000 Research Grant from Sofia Sees Hope
Sofia Sees Hope, a nonprofit dedicated to finding treatments and cures for people with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), has made a $100,000 donation to the Foundation Fighting Blindness to support therapy development and genetic testing.
Jan 17, 2019
Pixium's PRIMA Bionic Vision System Restores Central Vision in Dry AMD Clinical Trial
The French bioelectronics company Pixium Vision has reported that its PRIMA bionic vision system has restored some central vision in patients with advanced dry age-related macular degeneration (AMD) participating in a clinical feasibility trial.
Nov 2, 2018
Foundation Invests $2.5 Million in Search for Elusive Retinal Disease Genes and Mutations
Since 1989 genetic researchers, many funded by the Foundation, have identified approximately 270 genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss.
Sep 11, 2018
FFB Congratulates RPE65 Gene Therapy Researchers for Champalimaud Award
On September 4, 2018, seven researchers, including six previously funded by the Foundation, were recognized with the prestigious 2018 Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies.
Aug 15, 2018
FFB Provides Four Career Development Awards to Up-and-Coming Clinical Researchers
Each recipient will receive a total of $375,000 over five years to help build an independent research program in addition to their clinical practices.
Aug 6, 2018
FFB Funding More than $2 Million in New Research
Seventy scientists submitted requests for funding.
Jul 20, 2018
Call to Action: Ask Congress to Support $1 Billion in Eye Research
Call to Action: Ask Congress to Support $1 Billion in Eye Research
Jul 5, 2018
Retinal Regeneration: Releasing Your Inner Salamander
Many research groups from around the world are investigating ways to create new photoreceptors from stem cells for transplantation into the retina for vision restoration.
Jun 22, 2018
VISIONS2018 Live Stream
Watch recorded sessions from VISIONS2018.
May 7, 2018
ARVO 2018: Dr. Henry Klassen Provides Update on jCyte Stem Cell Trials
Dr. Henry Klassen, jCyte co-founder and investigator at UC Irvine, provides an update on the clinical trials for an RP therapy derived from stem cells.
May 3, 2018
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
May 2, 2018
ARVO 2018: Dr. Steve Rose Reports on CRISPR/Cas9 for Inherited Retinal Diseases
FFB’s own Dr. Steve Rose, chief scientific officer, reviews our commitment to funding and exploring CRISPR/Cas9 gene editing for inherited retinal disease.
Apr 25, 2018
ARVO 2018: World's Largest Show and Tell for Innovations in Eye Research
More than 11,000 eye researchers from around the world — including five intrepid members from FFB’s science team — will gather to participate in what is essentially a massive “show and tell” of the latest scientific advancements.
Jan 17, 2018
Clinical Trial to Launch for System Combining Optogenetics and Eyewear
The French biotech GenSight Biologics has received regulatory authorization in the UK to launch the PIONEER Phase 1 \ 2 clinical trial for its GS030 system — a light-sensing gene therapy (optogenetics) coupled with eyewear, which enhances visual stimulation.
Jan 9, 2018
Top Retinal Research Advances for 2017
An exciting year in fighting blindness.
Dec 21, 2017
jCyte Reports Results for Phase 1/2a Clinical Trial for Retinal-Cell Treatment
Some participants reported increased light sensitivity, improved color vision, better mobility, and improved reading ability.
Dec 20, 2017
History Is Made: FDA Approves Spark's Vision-Restoring Gene Therapy
Known as LUXTURNA™ (voretigene neparvovec), the gene therapy restored vision in a clinical trial for people between the ages of 4 and 44 with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65.
Nov 21, 2017
Stem-Cell Therapy Clinics Remain Inadequately Regulated, Pose Risk to Patients
If a clinic is charging for a stem-cell treatment or procedure for an IRD, it is probably not legit. The expense to the patient is a major red flag.
Oct 13, 2017
FDA Committee Unanimously Recommends Approval for Spark's RPE65 Gene Therapy - Final Decision Due in January 2018
An advisory committee comprised of FDA-selected experts voted unanimously – 16 to 0 – to recommend approval.
Sep 27, 2017
The Foundation's Investments Are Filling the Pipeline for Vision-Saving Therapies
In addition to funding promising biotech start-ups, the Foundation Fighting Blindness has played a critical role in developing research talent.
Jul 26, 2017
Scientists Receive $25 Million to Develop a Vision-Restoring System that Connects to the Brain
The high-tech, vision-restoring system interfaces with the visual cortex, the back of the brain where visual input is processed to create the images we see.
Jul 25, 2017
Foundation Fighting Blindness and 4D Molecular Therapeutics Partner to Boost Retinal Gene Therapy Development
The partnership will help companies and researchers quickly obtain and implement high-quality vectors for their retinal gene-therapy development efforts.
Jul 24, 2017
FFB-Funded Scientists Report on Nine Promising Translational Research Efforts
The Foundation Fighting Blindness has taken the translational challenge head on by investing more than $75 million in therapy-development projects with strong clinical-trial potential through its Translational Research Acceleration Program (TRAP), which includes Gund-Harrington Scholar Awards.
Jul 12, 2017
SparingVision Formed to Advance Sight-Saving Protein for RP
SparingVision received a €300,000 award known as the Honor Prize from the French Ministry of Research. The award is given to new, innovative companies in France competing in a national contest.
May 23, 2017
Forty-Four High-Impact Retinal-Research Efforts Highlighted at FFB-Casey Innovation Summit
In its fourth year, the meeting is becoming the world’s most comprehensive overview of the promising research underway for emerging IRD treatments.
May 8, 2017
FFB Funding Helps Retinal Genetics Lab Secure $2 Million Investment
How the Foundation Fighting Blindness (FFB) provided timely funding of $155,000 to help a lab at the University of California, San Diego (UCSD), leverage a $2 million retinal-gene discovery project.
Mar 22, 2017
Dr. Eliot Berson, Pioneer in Vitamin A Therapy for Retinitis Pigmentosa, Passes Away
Dr. Berson dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades.
Mar 16, 2017
Unregulated Stem-Cell Therapy Causes Severe Vision Loss for Three Florida Women
“…participation in a study for an emerging therapy that is not regulated by the FDA or another well-recognized regulatory agency like the European Medicines Agency in Europe, is fraught with dangers and can lead to unexpected serious consequences.”
Feb 17, 2017
AGTC Leverages Funding from the Foundation to Move Promising Treatments into Clinical Trials
Company Builds on FFB’s Initial Investment to Garner $265 Million in Therapy Development Funding
Jan 19, 2017
Foundation Investing in Drug to Slow Many Forms of RP
The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has announced an investment of up to $7.5 million to advance the potential therapy into and through a Phase II clinical trial.
Dec 21, 2016
FFB-CRI Leads Effort to Identify Outcome Measures for Therapies in Clinical Trials
Improved outcome measures will make clinical trials for degenerative retinal diseases — including age-related macular degeneration (AMD), the world’s leading cause of blindness in seniors, and inherited retinal conditions such as RP and Stargardt disease — less expensive to conduct and able to deliver more precise results.
Dec 19, 2016
A Change in Identity Might Someday Save Vision
By changing the identity of cells in the retina–namely rods–researchers may someday be able to slow or halt vision loss for those with retinitis pigmentosa (RP) and other related conditions.
Oct 18, 2016
Building a Wiring Diagram for the Retina to Help Researchers Save and Restore Vision
Understanding the pathways of the retinal neural network — and how they are rewired with aging and disease — is helpful in trying to save and restore vision.
Oct 11, 2016
Nobel-Prize-Winning Stem-Cell Researcher Delivers Keynote at FFB-Funded Conference in Kyoto
Dr. Shinya Yamanka discussed his early clinical trial for iPSC-derived retinal pigment epithelial (RPE) cells for a 78-year-old woman with advanced wet age-related macular degeneration (AMD).
Oct 6, 2016
Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance
The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging.
Aug 18, 2016
Optogenetic Therapy Takes First Step Forward in Clinical Trial
RetroSense’s optogenetic therapy is designed to restore vision to people who are completely blind from retinal degenerative diseases such as retinitis pigmentosa by bestowing light sensitivity to retinal ganglion cells, which survive after photoreceptors, the cells that make vision possible, are lost.
Aug 2, 2016
Pixium Vision Reports Progress in Development of Two Advanced Bionic Retina Systems
Both approaches show strong, near-term potential for providing meaningful vision to people who are otherwise blind from retinal diseases such as retinitis pigmentosa and age-related macular degeneration (AMD).
Jul 21, 2016
Stem-Cell Therapy for Retinitis Pigmentosa Safe Thus Far in Early Human Study
The trial is one of the first-ever for a stem-cell-derived therapy for RP.
Jul 1, 2016
VISIONS 2016 — Dr. Shomi Bhattacharya Wins FFB Award for Gaining an Understanding of Variations in Vision Loss
At VISIONS 2016, FFB’s national conference, the Foundation honored him with its Ed Gollob Board of Directors Award for breakthrough research conducted within the past year.
Jul 1, 2016
VISIONS 2016 - Dr. Richard Weleber Receives FFB's Highest Research Honor, Recognized in Touching Video
Dr. Weleber became the 10th recipient of the Foundation’s highest honor, named after FFB co-founder Lulie Gund, during the opening lunch of the VISIONS 2016 conference.
Jun 24, 2016
A Steady Hand in Saving Vision
Subretinal injection is the most common form of delivery for gene therapies currently in clinical trials.
Oct 8, 2015
A Leap Forward: Spark Therapeutics Seeks FDA Approval for its Vision-Restoring Gene Therapy
Jun 27, 2015
VISIONS 2015 — Dr. José Sahel Receives Foundation's Most Prestigious Research Honor
For those of us supporting the drive for vision-saving treatments and cures, he’s exactly the type of person we want on our team.
Jun 26, 2015
VISIONS 2015 — Dr. Shannon Boye Receives FFB Award for Excellence in Gene-Therapy Research
Dr. Boye received the Foundation’s Board of Director’s Award, which was presented at VISIONS 2015, FFB’s annual conference, for achievements in retinal research.
May 19, 2015
ARVO 2015 Highlight: The National Eye Institute Invests $4 Million in Audacious-Goals Research
The mission of the program—to regenerate the neurons and neural connections in the eye and visual system—is synonymous with the Foundation’s mission to eradicate retinal diseases.
May 13, 2015
ARVO 2015 Highlight: New Research Boosts Prospects for Saving Vision with RdCVF
After years of refinement and testing in animal models, the emerging therapy is about a year and a half from moving into a clinical trial.
May 12, 2015
ARVO 2015 Highlight: A Cut-and-Paste Approach to Fixing Retinal-Disease Genes
One of the hot topics at ARVO this year is a rapidly advancing gene-therapy approach called clustered regularly interspaced short palindromic repeats, or CRISPR.
Aug 1, 2014
How Evolution is Leading to Gene Therapies for More Retinal Diseases
An innovative genetic-engineering approach called “directed evolution” to find optimal gene-delivery systems based on adeno-associated viruses (AAVs).
Jun 21, 2014
VISIONS 2014 — 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
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
ARVO 2014: European Collaboration Developing Cross-Cutting, Vision-Saving Therapies
Simply put, they’re creating therapies that can save vision in as many people as possible, independent of the genetic cause of disease.
Apr 8, 2014
Total Blindness and Non-24 Sleep Disorder
Non-24 is a very rare condition affecting many (but not all) people who are totally blind and have absolutely no light perception. Their circadian clocks become out of sync as a result.
Mar 20, 2014
UCI Stem-Cell Pioneer Poised to Launch Clinical Trial for RP Patients
Dr. Henry Klassen’s progenitor-based therapy has the potential to rescue a variety of retinal cells — including rods, cones, retinal pigment epithelium and ganglion cells — and, therefore, may save vision in people with a wide range of conditions.
Dec 31, 2013
Nouvelle Lumière: French Bionic Retina in a Human Study
The French retinal implant developer Pixium quietly launched a clinical trial for its Intelligent Retinal Implant System 1 (IRIS1) in France, Austria and Germany.
Nov 5, 2013
Is Acupuncture a Beneficial Treatment for Retinitis Pigmentosa?
Acupuncture definitely has potential benefits, and the breadth of those is being aggressively explored.
Sep 26, 2013
New Imaging Technique May Be Game-Changer for RP Clinical Trials
Known as EZ Width, it holds potential for reducing the time, cost and number of patients needed to determine if a therapy is working in a clinical trial.
Aug 9, 2013
When a Condition is More than a Retinal Disease
The Foundation Fighting Blindness is, of course, all about finding treatments and cures for retinal degenerative diseases. However, we are well aware that many of our constituents and their families are dealing with more than just vision loss. That’s because genetic defects causing retinal conditions can sometimes affect other parts of the body. The result is conditions often referred to as syndromes.
Jul 26, 2013
Researchers Move Closer to Getting a Complete Genetic Picture of the Retina
Identifying the genes and proteins that play a major role in retinal health and vision is an important step in finding preventions and cures for degenerative diseases.
Jun 12, 2013
Patient Registries Help Advance Research for Rare Diseases
Many registries enable patients to collect and track information about their health, so they can take an active role in managing their care.
May 10, 2013
Grow Your Own: Harnessing Muller Glia for Retinal Regeneration
There’s hope for retinal regeneration for humans, thanks to Foundation-funded researcher Dr. Thomas Reh, who is investigating how to derive new photoreceptors from retinal cells called Muller glia.
May 7, 2013
Retinal Regeneration is Major Focus of NEI's Audacious Goal
The goal, “to regenerate the neurons and neural connections in the eye and visual system,” is exactly what people with retinal diseases need to save and restore their vision.
Apr 30, 2013
Researcher Revolutionized Fight Against Blindness and Cancer
A profile on Dr. Robert Langer, a medical researcher who has received dozens of awards, accolades and honorary degrees, including, recently, FFB’s Visionary Award.
Apr 17, 2013
A New Therapeutic Trick for Old Dogs
Mar 8, 2013
Staying Alive: Saving Retinal Cells to Preserve Vision
Sometimes, saving vision simply comes down to keeping retinal cells alive, or at least slowing their degeneration.
Feb 18, 2013
History in the Making
More good news about treatments and technological advances for restoring vision for people with retinal diseases.
Jun 19, 2012
Have I Got a Cure for You! Debunking an Alleged Treatment on the Internet
How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment.