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Documenta Ophthalmologica

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01-04-2014 | Clinical Case Report

Ophthalmic findings in an infant with phosphomannomutase deficiency

Authors: Wyatt B. Messenger, Paul Yang, Mark E. Pennesi

Published in: Documenta Ophthalmologica | Issue 2/2014

Abstract

Introduction

We present the ocular features including full-field electroretinography (ff-ERG) and spectral domain optical coherence tomography (SD-OCT) in a 14-month-old infant with congenital disorder of glycosylation type 1a (PMM2-CDG).

Methods and results

An infant with failure to thrive, bilateral neurosensory hearing loss, cerebellar hypoplasia, and pericardial effusions was referred to ophthalmic genetics for evaluation. The patient had fix and follow vision, an intermittent esotropia, moderate myopia, a hypo pigmented macula, and mild attenuation of the retinal vasculature. Electroretinography showed severe reduction in both rod and cone-dependent responses with a negative waveform pattern. Handheld SD-OCT revealed severe attenuation of the outer retina throughout the macula, but with preservation of outer retinal structures in the fovea.

Conclusion

PMM2-CDG is a rare congenital disorder for which both ff-ERG and SD-OCT were useful in demonstrating early changes in retinal architecture and function.

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Title: Ophthalmic findings in an infant with phosphomannomutase deficiency
Authors: Wyatt B. Messenger
Paul Yang
Mark E. Pennesi
Publication date: 01-04-2014
Publisher: Springer Berlin Heidelberg
Published in: Documenta Ophthalmologica / Issue 2/2014
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-014-9427-0

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Ophthalmic findings in an infant with phosphomannomutase deficiency

Abstract

Introduction

Methods and results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Introduction

Methods and results

Conclusion

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