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

  • R. Francisco
  • C. Pascoal
  • D. Marques-da-Silva
  • E. Morava
  • G. A. Gole
  • D. Coman
  • J. Jaeken
  • Vanessa dos Reis FerreiraEmail author


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.





Anterior chamber


Congenital disorder(s) of glycosylation




Fukuyama congenital muscular dystrophy


Inner limiting membrane


Larsen of Reunion Island syndrome


Muscle-eye-brain disease


Peters anomaly


Persistent hyaloid vasculature


Persistent hyperplastic primary vitreous


Persistent primary vitreous


Posttranslational modification


Retinitis pigmentosa


Visual evoked potential


Walker-Warburg syndrome



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.

Animal rights

This review does not contain any studies with human or animal subjects performed by any of the authors.

Informed consent

No human studies were performed for this study.

Supplementary material

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ESM 1 (DOCX 13 kb)
10545_2017_119_MOESM2_ESM.jpg (85 kb)
ESM 2 (JPEG 85 kb)


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Copyright information

© SSIEM 2018

Authors and Affiliations

  • R. Francisco
    • 1
    • 2
    • 3
  • C. Pascoal
    • 1
    • 2
    • 3
  • D. Marques-da-Silva
    • 1
    • 2
    • 3
  • E. Morava
    • 3
    • 4
  • G. A. Gole
    • 3
    • 5
  • D. Coman
    • 3
    • 6
  • J. Jaeken
    • 3
    • 4
  • Vanessa dos Reis Ferreira
    • 2
    • 3
    Email author
  1. 1.UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e TecnologiaUniversidade NOVA de LisboaLisbonPortugal
  2. 2.Portuguese Association for CDGLisbonPortugal
  3. 3.CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)LisbonPortugal
  4. 4.Center for Metabolic DiseaseKU LeuvenLeuvenBelgium
  5. 5.Discipline of Paediatrics and Child HealthUniversity of Queensland, Queensland Children’s HospitalBrisbaneAustralia
  6. 6.Department of Metabolic MedicineThe Lady Cilento Children’s HospitalBrisbaneAustralia

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