Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 42, Issue 1, Pages 29-48Publisher
WILEY
DOI: 10.1002/jimd.12025
Keywords
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Funding
- Fundacao para a Ciencia e Tecnologia
- CDG Professionals and Patient Associations International Network
- APCDG
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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.
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