Bardet-Biedl syndrome.
Tapetoretinal degeneration, obesity, polydactyly, mental retardation, and hypogonadism are the cardinal signs of Bardet-Biedl syndrome. Formerly grouped with Laurence-Moon syndrome, Bardet-Biedl has established itself as a separate entity. It is one of the rare systemic diseases associated with a form of retinitis pigmentosa. Presented here is a case report of a child first diagnosed with this condition. The importance of identifying the systemic signs, ocular involvement, electrophysiologic testing, genetics, and management are discussed.
Steiner
P A
PA
Naval Hospital, Great Lakes, IL 60088.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014792:Visual Acuity