Cherry red spot in sialidosis (mucolipidosis type I)

Arch Ophthalmol. 2008 Feb;126(2):270-1. doi: 10.1001/archophthalmol.2007.31.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Fibroblasts / enzymology
  • Humans
  • Macula Lutea / pathology*
  • Male
  • Mucolipidoses / diagnosis*
  • Mucolipidoses / enzymology
  • Mucolipidoses / urine
  • N-Acetylneuraminic Acid / urine
  • Neuraminidase / metabolism
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / enzymology
  • Retinal Diseases / urine
  • Skin / cytology

Substances

  • Neuraminidase
  • N-Acetylneuraminic Acid