title: Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.
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 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 Ia, nine had CDG type Ic and 14 had a so-far undiagnosed biochemical background (CDG type Ix). 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 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, 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.
authors.affiliation: Radboud University Nijmegen Medical Centre, Department of Pediatrics, PO Box 9101, 6500 HB Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl
authors.forename: E
authors.initials: E
authors.lastname: Morava
authors.forename: H N
authors.initials: HN
authors.lastname: Wosik
authors.forename: J
authors.initials: J
authors.lastname: Sykut-Cegielska
authors.forename: M
authors.initials: M
authors.lastname: Adamowicz
authors.forename: M
authors.initials: M
authors.lastname: Guillard
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: D J
authors.initials: DJ
authors.lastname: Lefeber
authors.forename: J R M
authors.initials: JR
authors.lastname: Cruysberg
mesh_terms: D000328:Adult; D017668:Age of Onset; D002386:Cataract / Q000150:complications / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000150:complications*; D005124:Eye Abnormalities / Q000150:complications / Q000175:diagnosis; D005260:Female; D005901:Glaucoma / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008297:Male; D011446:Prospective Studies; D012174:Retinitis Pigmentosa / Q000150:complications / Q000175:diagnosis; D013285:Strabismus / Q000150:complications / Q000175:diagnosis; D014786:Vision Disorders / Q000150:complications* / Q000175:diagnosis