Evidence map›Paper›PMID 30769084›Full record

ArticleJournal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus2019

Considerations in multi-gene panel testing in pediatric ophthalmology.

Amy E Turriff, Catherine A Cukras, Brian P Brooks, Laryssa A Huryn

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Reply.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2020
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Amy E TurriffNational Eye Institute, National Institutes of Health, Bethesda, Maryland.
Catherine A CukrasNational Eye Institute, National Institutes of Health, Bethesda, Maryland.
Brian P BrooksNational Eye Institute, National Institutes of Health, Bethesda, Maryland.
Laryssa A HurynNational Eye Institute, National Institutes of Health, Bethesda, Maryland. Electronic address: laryssa.huryn@nih.gov.

Funding

Ophthalmic Genetics FellowshipZIEEY000477 · NEI · NATIONAL EYE INSTITUTE · PI HURYN, LARYSSA · 2009 to 2025
$7.2M
Intramural NIH HHS Z99 EY999999
6 · The paper itself

Abstract

Multi-gene panel testing is used increasingly in ophthalmology practice as an efficient and cost-effective method for diagnosing inherited eye conditions. Panel testing is a powerful diagnostic tool, and it has the potential to reveal syndromic information in patients with seemingly isolated eye findings. This case series highlights our experience with 4 children in 3 families who were referred for evaluation of an isolated retinal degeneration and diagnosed with neuronal ceroid lipofuscinosis on panel testing. These cases are important reminders that several neurodegenerative conditions can present initially with isolated eye findings in childhood and pretest genetic counseling is critical.

Indexed as

MutationChildDNA Mutational AnalysisElectroretinographyFemaleHumansMaleMembrane GlycoproteinsMolecular ChaperonesNeuronal Ceroid-LipofuscinosesPedigreeRetinaRetinal DegenerationTomography, Optical CoherenceCLN3 protein, humanMembrane GlycoproteinsMolecular Chaperones

Identifiers

PMID30769084
PMCPMC8356141

What OpenQuestion holds

Textmetadata
LicenceTDM
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.