Evidence map›Paper›PMID 40132901›Full record

SynthesisBMJ open ophthalmology2025

Systematic review of genotype-phenotype associations in

Malak Banjak, Jinane Noureldine, Zahraa Mousawi, Joseph Nehme, Lama Jaffal, Said El Shamieh

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in BMJ open ophthalmology, 2025. 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
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. 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.

Malak Banjak *Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatyeh, Lebanon.ORCID 0009-0004-2035-3994
Jinane Noureldine *Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatyeh, Lebanon.ORCID 0009-0008-5353-3464
Zahraa MousawiMolecular Testing Laboratory, Department of Medical Laboratory Technology, Beirut Arab University, Beirut, Lebanon.ORCID 0009-0005-7271-2028
Joseph NehmeFaculty of Medicine, Holy Spirit University of Kaslik, Jounieh, Lebanon.ORCID 0000-0002-4740-7663
Lama JaffalRammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatyeh, Lebanon.ORCID 0000-0002-5419-8871
Said El ShamiehMolecular Testing Laboratory, Department of Medical Laboratory Technology, Beirut Arab University, Beirut, Lebanon s.elshamieh@bau.edu.lb.ORCID 0000-0002-8522-0445

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectives

methods84 studies, including 373 worldwide participants, were reviewed. These studies were checked for quality using Murad's tool for methodological quality and synthesis of case series and case reports. Clinical data, fundus imaging characteristics and genetic pathogenic variants were analysed.

resultsThe quality analysis revealed an overall good quality of the dataset, with some exceptions that do not detract from this trend. A predominance of cone-rod dystrophy (CRD) and Leber congenital amaurosis (LCA) among

conclusion

Indexed as

Genetic Association StudiesHomeodomain ProteinsMutationRetinal DystrophiesTrans-ActivatorsGenotypeHumansPhenotypecone rod homeobox proteinHomeodomain ProteinsTrans-ActivatorsDiagnostic tests/InvestigationGeneticsRetina

Identifiers

PMID40132901
PMCPMC11938251

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.