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 Living and Thriving pages 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 Web site
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.
Research and clinical trials
The Foundation is supporting several promising avenues of research, including gene, stem-cell, and drug therapies.
To learn about clinical trials underway for BBS-related RP, visit www.ClinicalTrials.gov.
Jul 19, 2018 Press Releases
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
Feb 21, 2019 Eye On the Cure Research News
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.
Feb 1, 2019 Retinal Disease Research Advances
Recent developments in research on retinitis pigmintosa.
Jan 29, 2019 Eye On the Cure Research News
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
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 Eye On the Cure Research News
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
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 Eye On the Cure Research News
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
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
Jul 5, 2018 Eye On the Cure Research News
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
Watch recorded session from VISIONS2018.
May 7, 2018 Eye On the Cure Research News
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
May 2, 2018 Eye On the Cure Research News
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
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 Eye On the Cure Research News
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
An exciting year in fighting blindness.
Dec 21, 2017 Eye On the Cure Research News
Some participants reported increased light sensitivity, improved color vision, better mobility, and improved reading ability.
Dec 20, 2017 Eye On the Cure Research News
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
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
In addition to funding promising biotech start-ups, FFB has played a critical role in developing research talent.
Jul 26, 2017 Eye On the Cure Research News
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
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 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 Eye On the Cure Research News
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
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 Eye On the Cure Research News
Dr. Berson dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades.
Mar 16, 2017 Eye On the Cure Research News
“…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
Jan 19, 2017 Eye On the Cure Research News
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
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
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
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
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
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
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 9, 2013 Science Education
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.
Feb 18, 2013 Eye On the Cure Research News
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
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.