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 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.
View a list of current clinical trials, many made possible by Foundation support.
Bardet-Biedl syndrome page at www.ClinicalTrials.gov.
Read the Most Recent Research on Bardet-Biedl syndrome (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
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Foundation Fighting Blindness Investing Nearly $6.5 Million in New Grants
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May 9, 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
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Jun 20, 2022
Rhythm Pharmaceuticals Receives FDA Approval for Drug to Control Obesity in People with Bardet-Biedl Syndrome (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
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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
Foundation Invests $2.5 Million in Search for Elusive Retinal Disease Genes and Mutations
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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.
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.
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
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Jun 22, 2018
VISIONS2018 Live Stream
Watch recorded sessions from VISIONS2018.
May 7, 2018
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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 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
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Dec 21, 2017
jCyte Reports Results for Phase 1/2a Clinical Trial for Retinal-Cell Treatment
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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
Scientists Receive $25 Million to Develop a Vision-Restoring System that Connects to the Brain
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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
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
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Mar 16, 2017
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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
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Dec 19, 2016
A Change in Identity Might Someday Save Vision
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Oct 18, 2016
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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
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Aug 2, 2016
Pixium Vision Reports Progress in Development of Two Advanced Bionic Retina Systems
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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
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Jul 1, 2016
VISIONS 2016 - Dr. Richard Weleber Receives FFB's Highest Research Honor, Recognized in Touching Video
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Jun 24, 2016
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Oct 8, 2015
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Jun 27, 2015
VISIONS 2015 — Dr. José Sahel Receives Foundation's Most Prestigious Research Honor
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Jun 26, 2015
VISIONS 2015 — Dr. Shannon Boye Receives FFB Award for Excellence in Gene-Therapy 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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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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Sep 26, 2013
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Aug 9, 2013
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May 10, 2013
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Feb 18, 2013
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Jun 19, 2012
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