
Bardet-Biedl syndrome (BBS)
Often diagnosed in childhood or adolescence, BBS is an inherited disease causing progressive loss of night and peripheral vision from retinitis pigmentosa. BBS can also cause a number of other symptoms and problems including: obesity, extra fingers and toes, kidney disease, and developmental disabilities. Symptoms vary from person to person.
What is Bardet-Biedl syndrome?
Bardet-Biedl syndrome (BBS) is a complex disorder that affects many parts of the body including the retina. Individuals with this syndrome have a retinal degeneration similar to retinitis pigmentosa (RP).
The retina is a thin piece of tissue lining the back of the eye. Rod and cone photoreceptors in the retina convert light into electrical signals that the brain interprets as vision. People with BBS-related RP experience a gradual decline in their vision, because photoreceptors degenerate.
What are the symptoms?
The diagnosis of Bardet-Biedl syndrome is often confirmed in childhood when visual problems due to RP are discovered. The first symptom of RP is night blindness. Night blindness makes it difficult to see in low light levels.
RP then causes a progressive loss of peripheral vision. Peripheral vision loss is often referred to as tunnel vision. Individuals with Bardet-Biedl can also experience central vision loss during childhood or adolescence.

In addition to RP, polydactyly (extra fingers and/or toes) and obesity are defining characteristics of Bardet-Biedl syndrome. The condition is usually first suspected when a child is born with polydactyly. Subsequent RP symptoms and obesity confirm the diagnosis. Extra fingers and toes are usually removed in infancy or early childhood. Slight webbing (extra skin) between fingers and between toes is also common. Most individuals have short, broad feet as well. Obesity may be present by childhood and is usually limited to the trunk of the body. Many individuals are also shorter than average.
About half of all individuals with Bardet-Biedl syndrome experience developmental disabilities ranging from mild impairment or delayed emotional development to intellectual disability. The degree of intellectual disability can range from mild cognitive disability to severe intellectual disability. Individuals may also experience renal (kidney) disease. Renal abnormalities can affect the structure and the function of the kidneys and can lead to severe renal impairment.
How the Disease is Inherited
Bardet-Biedl syndrome is genetically passed through families by the autosomal recessive pattern of Bardet-Biedl Syndrome inheritance. In this type of inheritance both parents, called carriers, have one gene for the syndrome paired with one normal gene. Each of their children then has a 25 percent chance (or 1 chance in 4) of inheriting the two Bardet-Biedl genes (one from each parent) needed to cause the disorder. Carriers are unaffected because they have only one copy of the gene. Researchers have identified 18 genes, when mutated, can each cause BBS.
Living with BBS
There are many services and accommodative and assistive resources available to people and families with BBS. Visit the Foundation’s Low Vision Resources page to learn about many of the vision-related resources. A low vision specialist can help recommend the resources that are right for you or your loved one.
More information on managing BBS-related RP is in the Newly Diagnosed section of this website.
Genetic Testing
Genetic testing is available for BBS. It helps with attaining an accurate diagnosis. It also helps assess the risk of passing the disorder from parent to offspring. A patient with an accurate diagnosis is in a better position to understand which emerging treatment approaches and clinical trials are most appropriate for them.
Clinical Trials
View a list of current clinical trials, many made possible by Foundation support.
Bardet-Biedl syndrome page at www.ClinicalTrials.gov.
Resource Download
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Resource Download
Download What You Should Know About Bardet-Biedl Syndrome Infographic - 8.5X11
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Next Section
Read the Most Recent Research on Bardet-Biedl syndrome (BBS)
Latest News
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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
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Mar 31, 2020
COVID-19 Resources
The Foundation Fighting Blindness is closely monitoring the COVID-19 situation and its impact on the IRD community.
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Feb 6, 2020
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.
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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.
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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.
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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
The program will offer patients with inherited retinal disease no-cost genetic testing and genetic counseling in the United States. Look for updated information on how to participate to be posted in mid-October, with program registration starting shortly thereafter.
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Aug 16, 2019
Foundation Fighting Blindness Investing Nearly $6.5 Million in New Grants
The newly funded research efforts include several therapies that have strong potential to treat a wide range of inherited retinal diseases.
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May 9, 2019
Foundation Fighting Blindness Endorses 'Eye Bonds' Legislation
Bipartisan Bill Will Stimulate Up to $1 Billion in New Funding for Blindness Research
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Jul 19, 2018
Foundation Fighting Blindness Urges Congress to Pass ‘Eye-Bonds’ Legislation
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
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Jun 8, 2018
Foundation Fighting Blindness and CheckedUp® Partner to Educate Retinal-Disease Patients About Research, Resources, and Emerging Therapies During Doctor Visits
The Foundation Fighting Blindness (the Foundation) and CheckedUp have formed a collaborative partnership to deliver patient-friendly diagnostic and disease-management information to people with retinal diseases such as age-related macular degeneration, retinitis pigmentosa, and Stargardt disease during their visits to eye doctors.
Latest Research
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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
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Feb 7, 2020
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Jun 17, 2019
The Retina is a Proving Ground for a Broad Range of Neurological Therapies
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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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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.
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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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Nov 2, 2018
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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
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Aug 15, 2018
FFB Provides Four Career Development Awards to Up-and-Coming Clinical Researchers
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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
Retinal Regeneration: Releasing Your Inner Salamander
Many research groups from around the world are investigating ways to create new photoreceptors from stem cells for transplantation into the retina for vision restoration.
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Jun 22, 2018
VISIONS2018 Live Stream
Watch recorded sessions from VISIONS2018.
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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.
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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
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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 25, 2018
ARVO 2018: World's Largest Show and Tell for Innovations in Eye Research
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Jan 17, 2018
Clinical Trial to Launch for System Combining Optogenetics and Eyewear
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Jan 9, 2018
Top Retinal Research Advances for 2017
An exciting year in fighting blindness.
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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.
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Dec 20, 2017
History Is Made: FDA Approves Spark's Vision-Restoring Gene Therapy
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Nov 21, 2017
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Oct 13, 2017
FDA Committee Unanimously Recommends Approval for Spark's RPE65 Gene Therapy - Final Decision Due in January 2018
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Sep 27, 2017
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Jul 26, 2017
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Jul 25, 2017
Foundation Fighting Blindness and 4D Molecular Therapeutics Partner to Boost Retinal Gene Therapy Development
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Jul 24, 2017
FFB-Funded Scientists Report on Nine Promising Translational Research Efforts
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Jul 12, 2017
SparingVision Formed to Advance Sight-Saving Protein for RP
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May 23, 2017
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May 8, 2017
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Mar 22, 2017
Dr. Eliot Berson, Pioneer in Vitamin A Therapy for Retinitis Pigmentosa, Passes Away
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Mar 16, 2017
Unregulated Stem-Cell Therapy Causes Severe Vision Loss for Three Florida Women
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Feb 17, 2017
AGTC Leverages Funding from the Foundation to Move Promising Treatments into Clinical Trials
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Jan 19, 2017
Foundation Investing in Drug to Slow Many Forms of RP
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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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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.
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Oct 18, 2016
Building a Wiring Diagram for the Retina to Help Researchers 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
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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.
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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 21, 2016
Stem-Cell Therapy for Retinitis Pigmentosa Safe Thus Far in Early Human Study
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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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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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Jun 24, 2016
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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
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May 13, 2015
ARVO 2015 Highlight: New Research Boosts Prospects for Saving Vision with RdCVF
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May 12, 2015
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Aug 1, 2014
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Jun 21, 2014
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Jun 21, 2014
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May 8, 2014
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Apr 8, 2014
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Mar 20, 2014
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Dec 31, 2013
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Nov 5, 2013
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Sep 26, 2013
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Aug 9, 2013
When a Condition is More than a Retinal Disease
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Jul 26, 2013
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Jun 12, 2013
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May 10, 2013
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May 7, 2013
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Feb 18, 2013
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Jun 19, 2012
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