Sustained regression of florid diabetic retinopathy in a patient with Donohue syndrome (leprechaunism).
OBJECTIVE
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.
Casati
Stefano
S
Department of Neurological and Visual Science, University of Verona, Verona, Italy. stefano.casati@univr.it
Zoppini
Giacomo
G
Muggeo
Michele
M
Marchini
Giorgio
G
D001786:Blood Glucose / Q000032:analysis; D003930:Diabetic Retinopathy / Q000175:diagnosis / Q000503:physiopathology* / Q000601:surgery; D056731:Donohue Syndrome / Q000097:blood / Q000188:drug therapy / Q000503:physiopathology*; D005260:Female; D005451:Fluorescein Angiography; D005951:Glucose Tolerance Test; D006801:Humans; D007328:Insulin / Q000008:administration & dosage; D017075:Laser Coagulation; D009887:Ophthalmoscopy; D011972:Receptor, Insulin / Q000235:genetics; D015861:Retinal Neovascularization / Q000175:diagnosis / Q000503:physiopathology* / Q000601:surgery; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
D001786:Blood Glucose; D007328:Insulin; D011972:Receptor, Insulin