Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome
Authors list
Oliver R Marmoy Veronica Kinsler Robert H Henderson Sian E Handley Will Moore Dorothy A ThompsonAbstract
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.
Journal details
Journal Documenta Ophthalmologica
Volume 142
Issue number 1
Pages 119-126
Available online
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Publisher website (DOI) 10.1007/s10633-020-09778-9
Europe PubMed Central 32617723
Pubmed 32617723
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