I型碳水化合物缺乏糖蛋白综合征：4例西西里患者的眼科表现
Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.
作者信息
Fiumara A, Barone R, Buttitta P, Di Pietro M, Scuderi A, Nigro F, Jaeken J
机构信息
Department of Pediatrics, University of Catania, Italy.
出版信息
Br J Ophthalmol. 1994 Nov;78(11):845-6. doi: 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.
摘要
四名患有I型糖基化缺陷糖蛋白（CDG）综合征的患者接受了眼科检查。他们所有人都患有视网膜色素变性，暗视视网膜电图熄灭。强调了CDG综合征作为伴有“骨针样”色素的视网膜营养不良的代谢原因之一的重要性。
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