Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients

Br J Ophthalmol. 1994 Nov;78(11):845-6. doi: 10.1136/bjo.78.11.845.

Abstract

Four patients with carbohydrate deficient glycoprotein (CDG) syndrome type I underwent ophthalmic examination. All of them had retinitis pigmentosa with extinguished scotopic electroretinogram. The importance of CDG syndromes as one of the metabolic causes of retinal dystrophy with 'bony spicule' pigment is stressed.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Carbohydrates / deficiency*
  • Child
  • Evoked Potentials, Visual
  • Female
  • Glycoproteins / chemistry*
  • Humans
  • Male
  • Retinal Degeneration / etiology*
  • Retinal Degeneration / genetics
  • Syndrome
  • Visual Acuity

Substances

  • Carbohydrates
  • Glycoproteins