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 language | English (US) |
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Pages (from-to) | 29-48 |
Number of pages | 20 |
Journal | Journal of inherited metabolic disease |
Volume | 42 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2019 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)