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Case Reports
. 1994 Nov;78(11):845-6.
doi: 10.1136/bjo.78.11.845.

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients

A Fiumara  1 , R Barone, P Buttitta, M Di Pietro, A Scuderi, F Nigro, J Jaeken
Affiliations
Case Reports

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients

A Fiumara et al. 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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References

    1. Glycobiology. 1993 Oct;3(5):423-8 - PubMed
    1. Arch Dis Child. 1989 Jan;64(1):71-6 - PubMed
    1. J Inherit Metab Dis. 1992;15(6):857-61 - PubMed
    1. Am J Ophthalmol. 1991 Jul 15;112(1):83-6 - PubMed
    1. Eur J Pediatr. 1992 Jan;151(1):2-11 - PubMed

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