Case Reports
doi: 10.1136/bjo.78.11.845.
Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients
Affiliations
- PMID: 7848982
- PMCID: PMC504970
- DOI: 10.1136/bjo.78.11.845
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Case Reports
Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients
Br J Ophthalmol.
1994 Nov.
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.
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