Evidence map›Paper›PMID 32567010›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2021

Rod bipolar cell dysfunction in POLG retinopathy.

Kit Green Sanderson, Eoghan Millar, Anupreet Tumber, Regan Klatt, Neal Sondheimer, Ajoy Vincent

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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
–field-weighted citation impact, top 94% 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, 1 citations in OpenAlex.

  1. 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.

Kit Green SandersonGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Eoghan MillarDepartment of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Anupreet TumberDepartment of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Regan KlattDepartment of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Neal SondheimerGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Ajoy VincentGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada. ajoy.vincent@sickkids.ca.ORCID 0000-0001-6446-3846
University of Toronto · CAHospital for Sick Children · CA

Funding

Foundation Fighting Blindness CD-CL-0617-0727-HSC
6 · The paper itself

Abstract

objectiveTo report the clinical and novel electrophysiological features in a child with POLG-related sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO).

methodsThe proband, a male child of Indian descent, underwent serial systemic and ophthalmological evaluations from birth until 14 years of age. Eye examinations included visual acuity and extraocular movement assessments, fundus photography, spectral domain optical coherence tomography and full-field electroretinography (ERG). Detailed genetic testing was also performed.

resultsThe child carried a homozygous mutation in POLG (c.911T > G/p.Leu304Arg) and manifested systemic features such as seizures, headaches, areflexia, hypotonia, myopathy and vomiting. The child's distance visual acuity was 0.50 and 0.40 LogMAR in the right and left eyes, respectively. Bilateral ophthalmoplegia and ptosis were observed at 5 years of age. The dark-adapted (DA) ERG responses to 2.29 cd s m

conclusionThis is the first documented case of an electronegative ERG in a POLG-related disorder consistent with generalized rod ON-bipolar dysfunction. The rest of the proband's systemic and ophthalmological features were consistent with SANDO but some features overlapped with other POLG-related disorders such as Alpers-Huttenlocher syndrome and autosomal dominant progressive external ophthalmoplegia demonstrating the wide phenotypic overlap expected due to POLG mutations.

Indexed as

Retinal DiseasesAdolescentDNA Polymerase gammaElectroretinographyHumansMaleMutationRetinal Rod Photoreceptor CellsTomography, Optical CoherenceDNA Polymerase gammaPOLG protein, humanElectroretinographyLight signal transductionPOLGPOLG1Polymerase gammaRetinal bipolar cells

Identifiers

PMID32567010
OpenAlexW3036777742

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.