Evidence map›Paper›PMID 40428427›Full record

ArticleGenes2025

Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.

Vanita Berry, Manav B Ponnekanti, Nancy Aychoua, Alex Ionides, Chrysanthi Tsika, Roy A Quinlan, Michel Michaelides

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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

7 authors.

Vanita BerryUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.ORCID 0000-0001-6008-8970
Manav B PonnekantiUCL Medical School, University College London, 74 Huntley St, London WC1E 6DE, UK.ORCID 0009-0001-9545-7489
Nancy AychouaUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.
Alex IonidesMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
Chrysanthi TsikaMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
Roy A QuinlanDepartment of Biosciences, University of Durham, Durham DH1 3LE, UK.ORCID 0000-0003-0644-4123
Michel MichaelidesUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.

Funding

National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees. (BRC-D-CON 546795)
6 · The paper itself

Abstract

backgroundThis paper will identify the potential genetic causes of multimorbidity associated with autosomal dominant congenital cataract (ADCC).

methodsWhole exome sequencing (WES) was performed on 13 individuals affected with ADCC. Subsequent bioinformatic analyses identified variants with deleterious pathogenicity scores.

resultsDisease-causing variants were identified in 8 genes already linked to cataract (

conclusionsWe report 11 novel genes identified in an ADCC patient cohort associated with systemic disorders found, along with 8 known cataract-causing genes. Our findings broaden the spectrum of potentially cataract-associated genes and their related lens phenotypes, as well as evidence multimorbidities in four patients, highlighting the importance of careful multisystem phenotyping following genetic analysis.

Indexed as

CataractAdolescentAdultChildCohort StudiesExome SequencingFemaleHumansMaleMultimorbidityMutationPhenotypeautosomal dominant congenital cataractmultimorbidityWES

Identifiers

PMID40428427
PMCPMC12111686

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Registered trials

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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.