Mucolipidosis I: ocular signs in three sisters

Metab Ophthalmol. 1984-1985;8(1):21-5.

Abstract

In inborn errors of metabolism ocular signs can often represent an early symptom and permit a presumed diagnosis which must be confirmed by biochemical studies. Moreover the ocular signs indicate the evolution of the illness together with other general symptoms.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Eye / pathology*
  • Eye / physiopathology
  • Female
  • Humans
  • Mucolipidoses / enzymology
  • Mucolipidoses / genetics*
  • Mucolipidoses / pathology
  • Mucolipidoses / physiopathology
  • Neurologic Manifestations
  • Pedigree