Sustained regression of florid diabetic retinopathy in a patient with Donohue syndrome (leprechaunism)

Eur J Ophthalmol. 2010 Jan-Feb;20(1):224-7. doi: 10.1177/112067211002000133.

Abstract

Purpose: Leprechaunism is a rare congenital syndrome caused by mutations of the insulin receptor gene, transmitted in an autosomal recessive pattern. Insulin growth factor-1 (IGF-1) treatment can be a therapeutic option in this syndrome by its insulin-like effects. Nevertheless, it is of note that IGF-1 has also an angiogenic activity.

Methods: Fundus examination by ophthalmoscopy, fluorangiography, and laser treatment were performed.

Results: A 17-year-old girl with leprechaunism, under treatment with high doses of insulin, presented a florid diabetic retinopathy. The large neovascularization of the disk regressed after treatment with argon laser panretinal photocoagulation. Five years after treatment, the patient maintained good vision.

Conclusions: This clinical case is of interest for 2 reasons: 1) the large retinal neovascularization was likely due to the high insulin dosages; 2) this is the first case in which a sustained regression of retinal neovascularization has been observed after laser treatment in leprechaunism.

Publication types

  • Case Reports

MeSH terms

  • Blood Glucose / analysis
  • Diabetic Retinopathy / diagnosis
  • Diabetic Retinopathy / physiopathology*
  • Diabetic Retinopathy / surgery
  • Donohue Syndrome / blood
  • Donohue Syndrome / drug therapy
  • Donohue Syndrome / physiopathology*
  • Female
  • Fluorescein Angiography
  • Glucose Tolerance Test
  • Humans
  • Insulin / administration & dosage
  • Laser Coagulation
  • Ophthalmoscopy
  • Receptor, Insulin / genetics
  • Retinal Neovascularization / diagnosis
  • Retinal Neovascularization / physiopathology*
  • Retinal Neovascularization / surgery
  • Visual Acuity / physiology
  • Young Adult

Substances

  • Blood Glucose
  • Insulin
  • Receptor, Insulin