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Reversible retinal edema in an infant with neonatal hemochromatosis and liver failure

Ramiro S Maldonado1, Sharon F Freedman, C Michael Cotten

  • 1Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27010, USA.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|March 15, 2011
PubMed

Insights

Neonatal hemochromatosis caused severe eye swelling and fluid in infants. Successful liver transplant resolved these retinal abnormalities, including the cherry-red spot appearance.

Area of Science:

  • Ophthalmology
  • Neonatology
  • Pediatric Gastroenterology

Background:

  • Neonatal hemochromatosis is a severe iron overload disorder.
  • Retinal manifestations are rare but can mimic other metabolic diseases.
  • Macular cherry-red spots are indicative of certain storage disorders.

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