Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.
Open Access
- 1 November 1994
- journal article
- case report
- Published by BMJ in British Journal of Ophthalmology
- Vol. 78 (11) , 845-846
- https://doi.org/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.Keywords
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