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Bardet-Biedl Syndrome and Vision: Understanding the Impact of Retinitis Pigmentosa


July 19, 2023

Explore the connection between Bardet-Biedl syndrome (BBS) and vision, specifically focusing on the role of retinitis pigmentosa. Learn about the impact of this genetic disorder on the eyes, symptoms related to vision loss, and potential management strategies. Discover how BBS affects the eye and gain insights into the challenges faced by individuals living with this condition.

Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects different parts of the body, including the eyes. One of the main vision problems associated with Bardet-Biedl syndrome is called retinitis pigmentosa (RP). This article aims to explain the connection between BBS and vision, with a focus on RP. By learning about how this genetic disorder affects the eyes, the symptoms related to vision loss, and possible ways to manage it, we can understand the challenges faced by people with BBS.

BBS is a genetic disorder that has various features, including intense, hard-to-control hunger, obesity, kidney problems, learning disabilities, and impairment. Retinitis pigmentosa is a common eye problem for people with BBS, which causes the retina to gradually degenerate. The retina has cells that capture and process light signals. A test called electroretinography (ERG) can diagnose RP by measuring the electrical response of these light-sensitive cells. As these cells worsen over time, people with BBS slowly lose their peripheral vision, have trouble seeing at night, and, in some cases, become completely blind. RP is a major reason for vision problems in people with BBS. Retinal specialists can help manage the symptoms of RP.

The eye problems related to BBS are mostly caused by the effects of retinitis pigmentosa. Signs of the condition can include difficulty seeing in low light or at night, which is known as night blindness. As the disease progresses, people may develop tunnel vision, where their side vision becomes narrower. Central vision, which is used for detailed tasks like reading or recognizing faces, may also become blurry. Some individuals with BBS may experience problems with color vision and be more sensitive to light.

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Even though there is no cure for BBS or RP, there are ways to manage vision loss and make the most of the remaining vision. Low vision aids like magnifiers, telescopic lenses, and assistive technologies can help improve vision and make daily activities easier. Training in orientation and mobility, along with adaptive techniques, can enhance navigation and spatial awareness. Regular eye check-ups and genetic counseling are crucial for monitoring the progression of retinitis pigmentosa and providing appropriate treatments.

In conclusion, Bardet-Biedl syndrome, along with its vision-related complications such as retinitis pigmentosa, presents significant challenges for individuals affected by this rare genetic disorder. By understanding how it affects the eyes and the symptoms related to vision loss, healthcare providers, researchers, and families can offer the right support and management strategies.


This blog post was developed by Ambit on behalf of Rhythm Pharmaceuticals, Inc.

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The majority of individuals living with BBS experience intense, hard-to-control hunger contributing to obesity. There is an approved treatment that significantly reduced measures of weight and hunger in clinical trials in people living with BBS. Take the questionnaire to connect to educational resources.

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Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.