Evidence map›Paper›PMID 41063816›Full record

ArticleCase reports in ophthalmology

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex

Sigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, Ingvild Aukrust, Cecilie Bredrup, Marte Innselset Flydal, Adam P DeLuca, Jeaneen L Andorf, Edwin M Stone, Per Morten Knappskog

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

Article in Case reports in ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Sigrid AslaksenDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Eirik BratlandDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Mari Hamre BuDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Ingvild AukrustDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Cecilie BredrupDepartment of Ophthalmology, Haukeland University Hospital, Bergen, Norway.
Marte Innselset FlydalDepartment of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Adam P DeLucaThe University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
Jeaneen L AndorfThe University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
Edwin M StoneThe University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
Per Morten KnappskogDepartment of Clinical Science, University of Bergen, Bergen, Norway.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Biallelic pathogenic variants in the Case Presentation: We report 2 unrelated patients with early-onset (≤12 years) Stargardt disease, both found to be homozygous for a complex Conclusion: This study highlights the genetic complexity of ABCA4-RD and the significance of pathogenic variants in

Indexed as

ABCA4Case reportsInherited retinal diseasesIn vitro assaysPathogenic variantsStargardt disease

Identifiers

PMID41063816
PMCPMC12503724

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.