title: Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome.
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.
authors.affiliation: Department of Ophthalmology, University of Lund, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Andréasson
authors.forename: G
authors.initials: G
authors.lastname: Blennow
authors.forename: B
authors.initials: B
authors.lastname: Ehinger
authors.forename: K
authors.initials: K
authors.lastname: Strömland
mesh_terms: D000293:Adolescent; D002239:Carbohydrate Metabolism, Inborn Errors / Q000503:physiopathology; D002648:Child; D002658:Developmental Disabilities / Q000503:physiopathology*; D004596:Electroretinography; D004948:Esotropia / Q000503:physiopathology; D005128:Eye Diseases / Q000503:physiopathology*; D005260:Female; D006023:Glycoproteins / Q000172:deficiency*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000503:physiopathology*; D012162:Retinal Degeneration / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000503:physiopathology; D013577:Syndrome
chemical_list: D006023:Glycoproteins