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Bardet-Biedl Syndrome

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Bardet-Biedl syndrome is a rare, inherited disorder that causes a number of abnormalities in the way certain parts of the body function, including a person’s vision. Named after Georges Bardet and Arthur Biedl, the physicians who independently described the disorder in the 1920s, vision loss associated with the syndrome takes the form of retinal dystrophy, with central vision loss often experienced first, and with a gradual deterioration of vision occurring through adolescence into adulthood. It is not unusual for affected individuals to be legally blind by early adulthood. According to the National Institutes of Health, the disease affects somewhere between 1 in 140,000 to 1 in 160,000 individuals, but is more common in Newfoundland and Labrador, which is genetically isolated. The prevalence of the syndrome in that province is approximately 1 in 17,000.[1]

Several genes are linked to Bardet-Biedl syndrome, and they all play roles in the management and structure of cilia, which are the slender protrusions that extend from the main body of many cells (“cilium,” the singular for “cilia,” is Latin for “eyelash”). Since these structures—or “organelles”—play an important role in the transmission of chemical signals that allow cells to communicate, including the signals involved in cells growth and sensory perception, mutations that impact cilia can lead to a number of irregularities, in sight and elsewhere.

Content on this page was written by Dr. Chad Andrews and Dr. Mary Sunderland, and was most recently updated on August 23, 2018.

Tell Us What it’s Like to Live With Bardet-Biedl syndrome

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