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Ophthalmic findings in classical galactosemia--a screened population

J P Burke1, M O'Keefe, R Bowell

  • 1Department of Paediatric Ophthalmology, Children's Hospital, Dublin, Ireland.

Journal of Pediatric Ophthalmology and Strabismus
|July 1, 1989
PubMed

Insights

Early diagnosis and a galactose-free diet prevent cataracts in children with galactosemia. Ophthalmologists play a key role in monitoring biochemical control to avoid lens opacities.

Area of Science:

  • Metabolic disorders
  • Genetics
  • Ophthalmology

Background:

  • Classical galactosemia is an autosomal recessive disorder of galactose metabolism.
  • Deficiency in galactose-1-phosphate-uridyl transferase leads to galactosemia.
  • Galactosemia can cause cataract formation due to galactitol accumulation in the lens.

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