Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome

Am J Ophthalmol. 1991 Jul 15;112(1):83-6. doi: 10.1016/s0002-9394(14)76218-x.

Abstract

We examined five patients who had carbohydrate-deficient glycoprotein syndrome with full-field electroretinograms. Only two of the patients showed fundus changes typical for retinitis pigmentosa, whereas abnormal electroretinograms were seen in all patients. There was no recordable rod response; however, a delay in the cone b-wave implicit time was noted. All patients had nyctalopia. These observations suggest that patients with the carbohydrate-deficient glycoprotein syndrome have a progressive tapetoretinal degenerative disorder of the retinitis pigmentosa type with defined alterations in the electroretinogram.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Carbohydrate Metabolism, Inborn Errors / physiopathology
  • Child
  • Developmental Disabilities / physiopathology*
  • Electroretinography
  • Esotropia / physiopathology
  • Eye Diseases / physiopathology*
  • Female
  • Glycoproteins / deficiency*
  • Humans
  • Male
  • Middle Aged
  • Neuromuscular Diseases / physiopathology*
  • Retinal Degeneration / physiopathology
  • Retinitis Pigmentosa / physiopathology
  • Syndrome

Substances

  • Glycoproteins