CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - OPHTHALMIC ASPECTS IN 4 SICILIAN PATIENTS

Authors
FIUMARA A BARONE R BUTTITTA P DIPIETRO M SCUDERI A NIGRO F JAEKEN J
Citation
A. Fiumara et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - OPHTHALMIC ASPECTS IN 4 SICILIAN PATIENTS, British journal of ophthalmology, 78(11), 1994, pp. 845-846
Citations number
8
Categorie Soggetti
Ophthalmology
Journal title
British journal of ophthalmology → ACNP
ISSN journal
00071161
Volume
78
Issue
11
Year of publication
1994
Pages
845 - 846
Database
ISI
SICI code
0007-1161(1994)78:11<845:CGST-O>2.0.ZU;2-T
Abstract
Four patients with carbohydrate deficient glycoprotein (CDG) syndrome type I underwent ophthalmic examination. All of them had retinitis pig mentosa with extinguished scotopic electroretinogram. The importance o f CDG syndromes as one of the metabolic causes of retinal dystrophy wi th 'bony spicule' pigment is stressed.