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Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

E Morava1, H N Wosik, J Sykut-Cegielska

  • 1Radboud University Nijmegen Medical Centre, Department of Pediatrics, PO Box 9101, 6500 HB Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl

The British Journal of Ophthalmology
|November 21, 2008
PubMed

Insights

Ophthalmological abnormalities are common in children with Congenital Disorders of Glycosylation (CDG), affecting vision and eye structures. Early screening for these eye conditions in all CDG patients is recommended.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Congenital Disorders of Glycosylation (CDG) type Ia often present with ocular issues and vision loss.
  • Limited information exists regarding ophthalmological abnormalities in other CDG subtypes.

Purpose of the Study:

  • To investigate the prevalence and spectrum of ocular abnormalities in children with CDG type I.
  • To compare ophthalmic findings across different CDG subgroups.

Main Methods:

  • Evaluated 45 children diagnosed with CDG type I for ocular abnormalities at diagnosis and during follow-up.
  • Compared ophthalmic findings among CDG type Ia, Ic, and undiagnosed (Ix) subgroups.

Main Results:

  • Ocular anomalies were found in 28 out of 45 children.
  • Unique findings included congenital cataract, retinal coloboma, and glaucoma.
  • CDG type Ia patients exhibited sequential symptoms like retinitis pigmentosa and cataract.

Conclusions:

  • Ophthalmic findings are frequent in CDG syndrome, affecting both anterior and posterior eye segments.
  • CDG can lead to abnormal eye development, vision impairment, motility issues, and altered intraocular pressure.
  • Routine ophthalmological screening and follow-up are suggested for all children diagnosed with CDG.
Abstract

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