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The Congenital Disorders of Glycosylation (CDG) are a clinically and genetically heterogeneous family of inherited diseases. Their clinical manifestations are truly multi-system. While the ophthalmological manifestations of CDG are not life threatening, they carry the potential for significant disease burden for the child and their family.
In this brief review we highlight the ophthalmological manifestations in patients with CDG, and discuss the importance of ocular glycobiology in health and disease.