A family with the Bardet-Biedl syndrome and diabetes mellitus

Arch Ophthalmol. 1989 Jun;107(6):855-7. doi: 10.1001/archopht.1989.01070010877034.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Diabetes Mellitus, Type 1 / diagnosis
  • Diabetes Mellitus, Type 1 / genetics*
  • Diagnosis, Differential
  • Electroretinography
  • Family
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Laurence-Moon Syndrome / diagnosis
  • Male
  • Obesity / diagnosis
  • Obesity / genetics*
  • Pedigree
  • Photoreceptor Cells / physiopathology
  • Prader-Willi Syndrome / diagnosis
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics*
  • Syndrome