Bardet-Biedl syndrome (BBS) is a rare, inherited disease that causes retinitis pigmentosa (RP), a progressive eye condition that leads to visual impairment. Night blindness is usually the first symptom, typically occurring between the ages of 5 and 10. Over time, patients experience enlarging blind spots in their peripheral vision, which can lead to tunnel vision. In the late stages, patients lose their central vision. BBS can also cause obesity, extra fingers and toes, kidney disease, and developmental disabilities. BBS can be diagnosed clinically, but genetic analysis is required for confirmation.

​There's no effective treatment for BBS-associated retinal degeneration and vision loss. However, gene therapy may be a possible treatment in the future. There are ways to manage symptoms and prevent complications. Network analysis and other bioinformatics tools can help prioritize candidate genes and diagnose BBS. 

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BBS appears to be more common in Newfoundland and Kuwait due to high consanguinity in those populations. 

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