Three new cases of Alström syndrome

Graefes Arch Clin Exp Ophthalmol. 2002 Aug;240(8):622-7. doi: 10.1007/s00417-002-0479-6. Epub 2002 Jul 20.


Purpose: To report three further cases of Alström syndrome and to present a review of the literature.

Methods: Three siblings, two brothers and a sister, are described. They had complete ophthalmologic examination with retinography and fluoroscein angiography. They also underwent general and metabolic examination and genetic study.

Results: Alström syndrome is a rare autosomal recessive disorder characterized by atypical retinal pigmentary degeneration, sensorineural hearing loss, obesity, non-insulin-dependent diabetes mellitus, and chronic nephropathy. The diagnosis is based on clinical, biologic (hyperglycemia with hyperinsulinism), and genetic criteria (autosomal recessive disorder on chromosome 2).

Conclusion: Blindness, hearing loss, complications of diabetes, and renal failure confirm the gravity of this syndrome. The prognosis regarding survival is correlated with the severity of renal failure.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Chromosomes, Human, Pair 2 / genetics
  • Diabetes Mellitus, Type 2 / diagnosis
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Genetic Linkage
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Obesity / diagnosis
  • Obesity / genetics*
  • Pedigree
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • Syndrome