Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.
AKT1
Foveal misalignment
Mosaic
Mosaicism
Multifocal
Pattern electroretinogram
Proteus syndrome
Journal
Documenta ophthalmologica. Advances in ophthalmology
ISSN: 1573-2622
Titre abrégé: Doc Ophthalmol
Pays: Netherlands
ID NLM: 0370667
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
10
02
2020
accepted:
11
06
2020
pubmed:
4
7
2020
medline:
27
8
2021
entrez:
4
7
2020
Statut:
ppublish
Résumé
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. Pattern electroretinography, visual evoked potentials and multifocal electroretinography testing were performed alongside detailed retinal imaging and clinical examination to detail the ophthalmic characteristics. 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. 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.
Identifiants
pubmed: 32617723
doi: 10.1007/s10633-020-09778-9
pii: 10.1007/s10633-020-09778-9
doi:
Substances chimiques
AKT1 protein, human
EC 2.7.11.1
Proto-Oncogene Proteins c-akt
EC 2.7.11.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
119-126Références
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