Evidence map›Paper›PMID 32617723›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2021

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

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

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In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 46% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Multimodal ocular imaging in Proteus syndrome.European journal of ophthalmology · 2023
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Oliver R MarmoyClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK. O.Marmoy@nhs.net.ORCID 0000-0003-2022-3669
Veronica A KinslerPaediatric Dermatology, Great Ormond Street Hospital for Children, London, UK.ORCID 0000-0001-6256-327X
Robert H HendersonClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.ORCID 0000-0002-5250-6404
Sian E HandleyClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.ORCID 0000-0002-7612-3889
Will MooreClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.
Dorothy A ThompsonClinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.ORCID 0000-0001-5491-3911
Great Ormond Street Hospital · GBManchester Metropolitan University · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeProteus 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.

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

resultsElectrophysiological 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.

conclusionWe 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.

Indexed as

Proteus SyndromeElectroretinographyEvoked Potentials, VisualFovea CentralisHumansProto-Oncogene Proteins c-aktTomography, Optical CoherenceAKT1 protein, humanProto-Oncogene Proteins c-aktAKT1Foveal misalignmentMosaicMosaicismMultifocalPattern electroretinogramProteus syndrome

Identifiers

PMID32617723
OpenAlexW3039739232

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.