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Documenta Ophthalmologica

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01-02-2021 | Clinical Case Report

Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome

Authors: Oliver R. Marmoy, Veronica A. Kinsler, Robert H. Henderson, Sian E. Handley, Will Moore, Dorothy A. Thompson

Published in: Documenta Ophthalmologica | Issue 1/2021

Abstract

Purpose

Proteus syndrome arises as a result of a post-zygotic mosaic activating mutation in the AKT1 oncogene, causing a disproportionate overgrowth of affected tissues. A small number of ocular complications have been reported. We present the unique findings in a patient who had molecular confirmation of AKT1 mosaicism alongside fulfilling the clinical criteria for Proteus syndrome.

Methods

Pattern electroretinography, visual evoked potentials and multifocal electroretinography testing were performed alongside detailed retinal imaging and clinical examination to detail the ophthalmic characteristics.

Results

Electrophysiological findings characterised unilateral macular dysfunction alongside sector retinal dysfunction of the right eye. This was demonstrated through optical coherence tomography and ultra-wide-field imaging to be associated with a misaligned foveal morphology and sector retinal dysfunction extending into the temporal retina.

Conclusion

We propose this patient has asymmetric foveal development and concomitant sector retinal dysfunction as the result of the mosaic AKT1 mutation, either through disruption in the retinal PI3K-AKT1 signalling pathway or through mechanical distortion of ocular growth, resulting in disproportionate inner retinal development. The findings expand the ocular phenotype of Proteus syndrome and encourage early assessment to identify any incipient ocular abnormalities.

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Title: Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome
Authors: Oliver R. Marmoy
Veronica A. Kinsler
Robert H. Henderson
Sian E. Handley
Will Moore
Dorothy A. Thompson
Publication date: 01-02-2021
Publisher: Springer Berlin Heidelberg
Published in: Documenta Ophthalmologica / Issue 1/2021
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-020-09778-9

At a glance: The STEP trials

Springer Medicine

Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome

Abstract

Purpose

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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