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

  • Review
  • Published:
Journal of Inherited Metabolic Disease

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.

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Abbreviations

α-DG:

Alpha-dystroglycan

AC:

Anterior chamber

CDG:

Congenital disorder(s) of glycosylation

ERG:

Electroretinogram

FCMD:

Fukuyama congenital muscular dystrophy

ILM:

Inner limiting membrane

LRS:

Larsen of Reunion Island syndrome

MEB:

Muscle-eye-brain disease

PA:

Peters anomaly

PHV:

Persistent hyaloid vasculature

PHPV:

Persistent hyperplastic primary vitreous

PPV:

Persistent primary vitreous

PTM:

Posttranslational modification

RP:

Retinitis pigmentosa

VEP:

Visual evoked potential

WWS:

Walker-Warburg syndrome

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Funding

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.

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Authors and Affiliations

  1. UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisbon, Portugal

    R. Francisco, C. Pascoal & D. Marques-da-Silva

  2. Portuguese Association for CDG, Lisbon, Portugal

    R. Francisco, C. Pascoal, D. Marques-da-Silva & Vanessa dos Reis Ferreira

  3. CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN), Lisbon, Portugal

    R. Francisco, C. Pascoal, D. Marques-da-Silva, E. Morava, G. A. Gole, D. Coman, J. Jaeken & Vanessa dos Reis Ferreira

  4. Center for Metabolic Disease, KU Leuven, Leuven, Belgium

    E. Morava & J. Jaeken

  5. Discipline of Paediatrics and Child Health, University of Queensland, Queensland Children’s Hospital, Brisbane, QLD, Australia

    G. A. Gole

  6. Department of Metabolic Medicine, The Lady Cilento Children’s Hospital, Brisbane, QLD, Australia

    D. Coman

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  1. R. Francisco
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  8. Vanessa dos Reis Ferreira
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Correspondence to Vanessa dos Reis Ferreira.

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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.

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Francisco, R., Pascoal, C., Marques-da-Silva, D. et al. Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review. J Inherit Metab Dis (2018). https://doi.org/10.1007/s10545-017-0119-2

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