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A Family With the Bardet-Biedl Syndrome and Diabetes Mellitus
Felipe Escallon, MD;
Elias I. Traboulsi, MD;
Ricardo Infante, MD
Arch Ophthalmol. 1989;107(6):855-857.
Abstract
• We studied a family with the Bardet-Biedl syndrome and diabetes mellitus. Two affected brothers and one affected sister were examined. Two older sisters with stigmata of the syndrome had died of unclear causes. The 18-year-old brother was obese, was mentally retarded, and had pigmentary retinopathy and insulin-dependent diabetes mellitus. The 16-year-old sister, who died in a diabetic coma during the course of the investigation, had polydactyly, hypogenitalism, obesity, mental retardation, and pigmentary retinopathy. The 8-year-old brother had all the features of the syndrome, but no overt diabetes mellitus. Electroretinography showed severe cone and rod dysfunction. Patients with the Bardet-Biedl syndrome should be screened for the presence of abnormalities in glucose metabolism.
Author Affiliations
From the Department of Ophthalmology, Children's Hospital National Medical Center, Washington, DC (Dr Escallon); The Center for Sight, Georgetown University Medical Center, Washington, DC (Dr Traboulsi); and Fundaciòn Oftalmològica Nacional, Bogotà, Colombia (Dr Infante).
Footnotes
Accepted for publication Nov 21,1988.
Reprint requests to The Center for Sight, 3800 Reservoir Rd NW, Washington, DC 20007 (Dr Traboulsi).
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