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

Marmoy, OR; Kinsler, VA; Henderson, RH; Handley, SE; Moore, W; Thompson, DA; (2021) Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome. Documenta Ophthalmologica , 142 pp. 119-126. 10.1007/s10633-020-09778-9. Green open access

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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.

Type: Article
Title: Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s10633-020-09778-9
Publisher version: https://doi.org/10.1007/s10633-020-09778-9
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: AKT1, Mosaic, Mosaicism, Proteus syndrome, Foveal misalignment, Multifocal, Pattern electroretinogram
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10109764
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