Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 7848982.
- Also identified by PMC identifier 504970.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Carbohydrates
- Glycoproteins
- Retinal Degeneration