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 manifestation...

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Bibliographic Details
Published inJournal of inherited metabolic disease pp. 1 - 16
Main Authors Francisco, R, Pascoal, C, Marques-da-Silva, D, Morava, E, Gole, G A, Coman, D, Jaeken, J, Dos Reis Ferreira, Vanessa
Format Journal Article
LanguageEnglish
Published United States Blackwell Publishing Ltd 01.02.2018
Subjects
Congenital diseases
Eye disorders
Glycosylation
Literature reviews
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Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-017-0119-2