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

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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Fig. 1

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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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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