Evidence map›Paper›PMID 32507954›Full record

ArticleInternational ophthalmology2020

Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis.

Giulio Ruberto, Rosanna Guagliano, Donatella Barillà, Margherita Bensi, Elisa Fazzi, Jessica Galli, Andrea Rossi, Cinzia Mazza, Federica Manzoni, Elisa Domenegati and 1 more

Abstract read
PubMed Publisher
In one paragraph

Article in International ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 50% 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 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Guideline
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

11 authors at 5 institutions in 2 countries.

Giulio RubertoOphthalmic Clinic IRCCS San Matteo Hospital, P.zzale Golgi 19, 27100, Pavia, Italy. rubertog@smatteo.pv.it.ORCID http://orcid.org/0000-0002-1833-0265
Rosanna GuaglianoOphthalmic Clinic IRCCS San Matteo Hospital, P.zzale Golgi 19, 27100, Pavia, Italy.
Donatella BarillàOphthalmic Clinic IRCCS San Matteo Hospital, P.zzale Golgi 19, 27100, Pavia, Italy.
Margherita BensiOphthalmic Clinic IRCCS San Matteo Hospital, P.zzale Golgi 19, 27100, Pavia, Italy.
Elisa FazziChild Neurology and Psychiatry Unit, ASST Spedali Civili, Brescia, Italy.
Jessica GalliChild Neurology and Psychiatry Unit, ASST Spedali Civili, Brescia, Italy.
Andrea RossiChild Neurology and Psychiatry Unit, ASST Spedali Civili, Brescia, Italy.
Cinzia MazzaMedical Genetics Laboratory, Department of Pathology, ASST Spedali Civili, Brescia, Italy.
Federica ManzoniScientific Direction, Clinical Epidemiology and Biometry Unit, San Matteo Hospital Foundation, Pavia, Italy.
Elisa DomenegatiDepartment of Anesthesiology and Reanimation, IRCCS San Matteo Hospital, Pavia, Italy.
Luciano QuarantaOphthalmic Clinic IRCCS San Matteo Hospital, P.zzale Golgi 19, 27100, Pavia, Italy.
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITPoliclinico San Matteo Fondazione · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITUniversity Hospital Foundation · CAUniversity of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo present a detailed study matching functional response and video imaging with genetic analysis in children suspected of inherited retinal dystrophy (IRD).

methodsSixteen children underwent fundus examination via video recording (Heine Omega 500 indirect ophthalmoscope with DV1 camera) and electroretinogram (ERG) under general anesthesia to investigate the cause of suspected low vision. The patients [median age 12 (interquartile range 8-57.5) months] had associated genetic analysis performed with next-generation sequencing or array-comparative genomic hybridization.

resultsFour children had potential pathogenic variants in genes involved in Leber congenital amaurosis and Joubert syndrome (NMNAT1, CEP290, KCNJ13, IMPDH1); 1 child had a 16p11.2 microdeletion and 1 in 2q22.1. The ERG was altered in 6 patients, fundus imaging showed serious abnormality matching an IRD in 7 children, and less severe fundus alterations were found in 2 subjects.

conclusionFundus imaging associated with ERG may be significant in IRD diagnosis and visual impairment prognosis, alongside genetic analysis and therapy in selected cases.

Indexed as

Nicotinamide-Nucleotide AdenylyltransferaseRetinal DystrophiesChildChild, PreschoolComparative Genomic HybridizationElectrophysiologyElectroretinographyHumansInfantMutationPedigreeVideo RecordingNicotinamide-Nucleotide AdenylyltransferaseNMNAT1 protein, humanArray-comparative genomic hybridizationElectroretinogramInherited retinal dystrophyNext-generation sequencingPatterned visual evoked potentialsVideo recording

Identifiers

PMID32507954
OpenAlexW3033190021

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.