Evidence map›Paper›PMID 32787478›Full record

ArticleOphthalmic genetics2020

Retinoschisis associated with Kearns-Sayre syndrome.

Julia Chertkof, Robert B Hufnagel, Delphine Blain, Andrea L Gropman, Brian P Brooks

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmic genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 37% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Julia ChertkofOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, Maryland, USA.
Robert B HufnagelOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, Maryland, USA.
Delphine BlainOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, Maryland, USA.
Andrea L GropmanDepartment of Neurology, Children's National Medical Center , Washington, District of Columbia, USA.
Brian P BrooksOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, Maryland, USA.ORCID 0000-0003-2320-2396
National Institutes of Health · USChildren's National · US

Funding

Ophthalmic Genetics FellowshipZIEEY000477 · NEI · NATIONAL EYE INSTITUTE · PI HURYN, LARYSSA · 2009 to 2025
$7.2M
Intramural NIH HHS ZIE EY000477
6 · The paper itself

Abstract

backgroundKearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS. MATERIALS AND

methodsPhysical and complete ophthalmic examination, molecular diagnosis.

resultsOver nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/strabismus, ptosis, pigmentary retinopathy, corneal edema, Type I diabetes mellitus, gut dysmotility, sensorineural deafness and heart block. At age 21 he was incidentally found to have retinoschisis on optical coherence tomography that remained stable over three years follow-up. Sequencing of the

conclusionsThese findings suggest retinoschisis may be a rare manifestation of KSS. A trial of a carbonic anhydrase inhibitor was frustrated by coexisting corneal edema associated with the condition.

Indexed as

AdultHumansKearns-Sayre SyndromeMalePrognosisRetinoschisisTomography, Optical CoherenceYoung AdultKearns-Sayre syndromemitochondriaretinoschisis

Identifiers

PMID32787478
PMCPMC8127726
OpenAlexW3049494623

What OpenQuestion holds

Textmetadata
LicenceCC0
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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.