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Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review
Author(s) -
Francisco Rita,
Pascoal Carlota,
MarquesdaSilva Dorinda,
Morava Eva,
Gole Glen A.,
Coman David,
Jaeken Jaak,
dos Reis Ferreira Vanessa
Publication year - 2019
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12025
Subject(s) - glycosylation , phenotype , broad spectrum , medicine , incidence (geometry) , clinical phenotype , pediatrics , bioinformatics , genetics , biology , gene , chemistry , physics , optics , combinatorial chemistry
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.