Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review
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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.
Congenital disorder(s) of glycosylation
Fukuyama congenital muscular dystrophy
Inner limiting membrane
Larsen of Reunion Island syndrome
Persistent hyaloid vasculature
Persistent hyperplastic primary vitreous
Persistent primary vitreous
Visual evoked potential
This work was supported by the CDG Professionals and Patient Associations International Network (CDG & Allies – PPAIN) and Liliana Fellowships from APCDG attributed to Marques-da-Silva D. Francisco R. was supported by Fundação para a Ciência e Tecnologia (FCT). The authors confirmed independence from sponsors; the content of the article has not been influenced by sponsors.
Compliance with ethical standards
Conflict of interests
R. Francisco, C. Pascoal, D. Marques-da-Silva, E. Morava, G. A. Gole, D. Coman, J. Jaeken, and V. dos Reis Ferreira declare that they have no conflict of interest.
This review does not contain any studies with human or animal subjects performed by any of the authors.
No human studies were performed for this study.
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