Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review

Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, Eva Morava, Glen A. Gole, David Coman, Jaak Jaeken, Vanessa dos Reis Ferreira

Research output: Contribution to journalReview article

1 Scopus citations

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 languageEnglish (US)
Pages (from-to)29-48
Number of pages20
JournalJournal of inherited metabolic disease
Volume42
Issue number1
DOIs
StatePublished - Jan 2019

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Francisco, R., Pascoal, C., Marques-da-Silva, D., Morava, E., Gole, G. A., Coman, D., Jaeken, J., & dos Reis Ferreira, V. (2019). Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review. Journal of inherited metabolic disease, 42(1), 29-48. https://doi.org/10.1002/jimd.12025