EPOS

European Paediatric Ophthalmological Society

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Ophthalmic manifestations in glycosylation disorders

Jensen Hanne^1
1Copenhagen University Hospital, Glostrup

Introduction: To review the clinical features of congenital disorders of glycosylation with a focus on ophtalmic features and report on longterm observations on 16 cases with CDG 1a. Methods: Retrospective case series and literature review Results: CDG 1a is the most common of the more than 30 known types defined by defects in the different steps of the synthetic pathway. The typical phenotype of the CDG 1a regarding ophthalmological findings includes esotropia, refractive myopia and progressive retinal dystrophy. Sixteen cases are presented that illustrate the typical clinical features of the disorder at different ages. Conclusion: Allmost all children had retinitis pigmentosa from an early age and the parents were well aware of the diagnosis. But as the children are wheelchair dependent and moderate to severe mentally retarded the families does not find that the children have severe visual problems despite it can be demonstrated objectively. It is therefore important to demonstrate the problems for caretakers in order to prevent the children from having unnecessary pitfalls.