Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

Background: Children with congenital disorders of glycosylation (CDG) type la frequently present with ocular involvement and visual loss. Little is known, however, about the occurrence of ophthalmological abnormalities in other subtypes of CDG syndrome. Methods: We evaluated 45 children sequentially diagnosed with CDG type I for the presence of ocular abnormalities at the time of the diagnosis and during follow-up. We compared the various ophthalmic findings in the different CDG subgroups. Results: Of the 45 patients, 22 had CDG type la, nine had CDG type lc and 14 had a so-far undiagnosed biochemical background (CDG type lx). We found ocular anomalies in 28 of the 45 children. Three had unique findings, including congenital cataract, retinal coloboma and glaucoma. A few CDG type la patients showed a sequential occurrence of symptoms, including retinitis pigmentosa or cataract. Conclusions: Ophthalmic findings are frequent in CDG syndrome involving both the anterior and posterior segment of the eye. The disorder might lead to abnormal development of the lens or the retina, cause diminished vision, alter ocular motility and intraocular pressure. We suggest routine screening and follow-up for ophthalmological anomalies in all children diagnosed with CDG syndrome to provide early treatment and adequate counselling.