What is Bardet-Biedl syndrome?
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, hypogenitalism, and renal abnormalities. Patients with BBS are susceptible to hypertension, diabetes mellitus, olfaction deficits, and congenital cardiac defects.
What are the symptoms?
Symptoms may include any or all of the above listed characteristics.
How is vision affected in a patient with BBS?
Rod-cone dystrophy is a primary feature of BBS. The characteristic fundus abnormality is an atypical pigmentary retinal dystrophy with early macular involvement. Night blindness is usually evident before age 10. The mean age of legal blindness is 15.5 years.
Is it an inherited disease?
Yes. BBS is typically inherited in an autosomal recessive manner.
Is there a genetic test available?
Yes. The John and Marcia Carver Nonprofit Genetic Testing Laboratory has available a clinical nonprofit test for Bardet-Biedl syndrome. See Genetic Tests We Offer
How can I order a genetic test for Bardet-Biedl Syndrome?
To order this test, start by following this link.
Is there a clinical trial available for this particular condition?
Research regarding the eye and blinding eye diseases is ongoing and the answer to this question might change on any given day. Thankfully there are resources available today to assist anyone interested in monitoring progress.
Where can I learn more about Bardet-Biedl syndrome?
GeneTests is a publicly funded web site that provides medical genetics information. While primarily targeted to physicians, researchers and other healthcare providers, patients and their families interested in a reliable resource for their own research will find this up-to-date comprehensive web site an invaluable tool. See Bardet-Biedl syndrome as found on GeneTests.org
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If you have any specific questions about BBS, please consult your personal physician.
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