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Erschienen in: Documenta Ophthalmologica 2/2014

01.04.2014 | Clinical Case Report

Ophthalmic findings in an infant with phosphomannomutase deficiency

verfasst von: Wyatt B. Messenger, Paul Yang, Mark E. Pennesi

Erschienen in: Documenta Ophthalmologica | Ausgabe 2/2014

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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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Metadaten
Titel
Ophthalmic findings in an infant with phosphomannomutase deficiency
verfasst von
Wyatt B. Messenger
Paul Yang
Mark E. Pennesi
Publikationsdatum
01.04.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
Documenta Ophthalmologica / Ausgabe 2/2014
Print ISSN: 0012-4486
Elektronische ISSN: 1573-2622
DOI
https://doi.org/10.1007/s10633-014-9427-0

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