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

Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, Eva Morava, Glen A. Gole, David Coman, Jaak Jaeken, Vanessa dos Reis Ferreira

Research output: Contribution to journalReview articlepeer-review

20 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)29-48
Number of pages20
JournalJournal of Inherited Metabolic Disease
Volume42
Issue number1
DOIs
Publication statusPublished - Jan 2019

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