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Bardet-Biedl Syndrome Retinal Degeneration: Understanding the Impact on Vision


July 19, 2023

Learn about Bardet-Biedl syndrome retinal degeneration, its effects on vision, associated symptoms, and management strategies. Explore how retinal degeneration in BBS leads to progressive vision loss and discover interventions for individuals with this rare genetic disorder.


Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects various aspects of the body, including the degeneration of the retina. This article aims to provide insights into the impact of retinal degeneration in BBS on vision, the symptoms associated with it, and available management strategies.

Understanding Retinal Degeneration in BBS:

Retinal degeneration refers to the gradual deterioration of the retina, the light-sensitive tissue located at the back of the eye. In BBS, retinal degeneration is a key characteristic and a primary cause of visual impairment. Over time, the cells responsible for capturing and transmitting visual signals to the brain (photoreceptor cells) begin to dysfunction and degenerate. This leads to a gradual loss of peripheral vision, night blindness, and difficulty distinguishing shapes and details of objects at a distance. The severity and progression of retinal degeneration can vary among individuals with BBS.

Symptoms of Retinal Degeneration in BBS:

Retinal degeneration in BBS gives rise to several visual symptoms. Early signs often include night blindness, where individuals have difficulty seeing clearly in low-light conditions. As the condition progresses, peripheral vision loss occurs, resulting in tunnel vision. Central vision may also be affected, causing reduced distance vision and challenges with tasks requiring fine detail. Additionally, individuals with BBS may develop sensitivity to bright light (photophobia) and experience abnormal color perception. It’s important to note that the rate of progression and specific symptoms experienced can vary from person to person.

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Management Strategies for BBS Retinal Degeneration:

While there is currently no cure for retinal degeneration in BBS, several management strategies can help optimize visual outcomes and improve quality of life. Low vision aids, such as magnifiers and telescopic lenses, can assist individuals in daily activities. Orientation and mobility training, along with adaptive techniques, can enhance navigation skills. Regular eye examinations are crucial for monitoring the progression of retinal degeneration and providing appropriate interventions.


Retinal degeneration in Bardet-Biedl syndrome has a significant impact on vision, leading to progressive visual impairment. By understanding the nature of retinal degeneration in BBS, its associated symptoms, and available management strategies, individuals with BBS and their families can seek appropriate support and interventions to optimize visual function. Ophthalmologists, particularly retinal specialists can help to support vision symptoms for patients with BBS.


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

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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.