Abstract

Background: Children with Congenital Disorders of Glycosylation (CDG) type Ia frequently present with ocular involvement and visual loss. Little is known, however about the occurrence of ophthalmologic 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: Out of the 45 patients 22 had CDG type Ia, 9 children had CDG type Ic and 14 patients had a so far undiagnosed biochemical background (CDG type Ix). We found ocular anomalies in 28 out of 45 children. Three of them had unique findings, including congenital cataract, retinal coloboma and glaucoma. A few CDG type Ia 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, altered 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 counseling.