Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O‐glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly‐organ/system dysfunction. Ophthalmic manifestations are present in 60% of these CDG. The ophthalmic manifestations in N‐glycosylation‐deficient patients have been described elsewhere. The present review documents the spectrum and incidence of eye disorders in patients with pure O‐glycosylation defects with the aim of assisting diagnosis and management and promoting research.