Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

Eva Morava-Kozicz, H. N. Wosik, J. Sykut-Cegielska, M. Adamowicz, M. Guillard, R. A. Wevers, D. J. Lefeber, J. R.M. Cruysberg

Research output: Contribution to journalArticle

33 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)350-354
Number of pages5
JournalBritish Journal of Ophthalmology
Volume93
Issue number3
DOIs
StatePublished - Mar 1 2009
Externally publishedYes

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Congenital Disorders of Glycosylation
Cataract
Posterior Eye Segment
Eye Abnormalities
Anterior Eye Segment
Coloboma
Low Vision
Retinitis Pigmentosa
Intraocular Pressure
Glaucoma
Lenses
Retina
Counseling

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

Morava-Kozicz, E., Wosik, H. N., Sykut-Cegielska, J., Adamowicz, M., Guillard, M., Wevers, R. A., ... Cruysberg, J. R. M. (2009). Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. British Journal of Ophthalmology, 93(3), 350-354. https://doi.org/10.1136/bjo.2008.145359

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. / Morava-Kozicz, Eva; Wosik, H. N.; Sykut-Cegielska, J.; Adamowicz, M.; Guillard, M.; Wevers, R. A.; Lefeber, D. J.; Cruysberg, J. R.M.

In: British Journal of Ophthalmology, Vol. 93, No. 3, 01.03.2009, p. 350-354.

Research output: Contribution to journalArticle

Morava-Kozicz, E, Wosik, HN, Sykut-Cegielska, J, Adamowicz, M, Guillard, M, Wevers, RA, Lefeber, DJ & Cruysberg, JRM 2009, 'Ophthalmological abnormalities in children with congenital disorders of glycosylation type I', British Journal of Ophthalmology, vol. 93, no. 3, pp. 350-354. https://doi.org/10.1136/bjo.2008.145359
Morava-Kozicz, Eva ; Wosik, H. N. ; Sykut-Cegielska, J. ; Adamowicz, M. ; Guillard, M. ; Wevers, R. A. ; Lefeber, D. J. ; Cruysberg, J. R.M. / Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. In: British Journal of Ophthalmology. 2009 ; Vol. 93, No. 3. pp. 350-354.
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