Sialidosis: the cherry-red spot--myoclonus syndrome

Can J Ophthalmol. 1980 Jan;15(1):35-9.

Abstract

The sialidoses are a group of storage disorders of autosomal recessive inheritance in which there is a deficiency of lysosomal neuraminidase (sialidase) activity and associated sialyloligosacchariduria. Patients with one type of sialidosis may present initially to the ophthalmologist because of a cherry-red spot at the macula. In most of these patients progressive neurologic deficits ultimately develop; myoclonus is a prominent feature. A patient with the so-called cherry-red spot--myoclonus syndrome is described who had a marked deficit of the ocular smooth pursuit system, with consequent nystagmus. His visual system was normal clinically and electrophysiologically despite the obvious storage in the retinal ganglion cells.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Electrooculography
  • Electroretinography
  • Humans
  • Macula Lutea*
  • Male
  • Myoclonus / complications*
  • Neuraminidase / deficiency*
  • Nystagmus, Pathologic / complications*
  • Nystagmus, Pathologic / diagnosis
  • Oligosaccharides / urine
  • Retinal Diseases / complications
  • Saccades
  • Sialic Acids / urine
  • Syndrome

Substances

  • Oligosaccharides
  • Sialic Acids
  • Neuraminidase