Evidence map›Paper›PMID 40868138›Full record

ArticleBiomedicines2025

Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.

Flora Delas, Jiradet Gloggnitzer, Alessandro Maspoli, Lisa Kurmann, Beatrice E Frueh, Ivanka Dacheva, Darius Hildebrand, Wolfgang Berger, Christina Gerth-Kahlert

Abstract read
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In one paragraph

Article in Biomedicines, 2025. 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

9 authors.

Flora DelasInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.ORCID 0009-0003-4420-4451
Jiradet GloggnitzerInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.ORCID 0000-0002-0779-8778
Alessandro MaspoliInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
Lisa KurmannInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
Beatrice E FruehDepartment of Ophthalmology, University Clinics Inselspital Bern, 3010 Bern, Switzerland.
Ivanka DachevaDepartment of Ophthalmology, Cantonal Hospital of St. Gallen, 9007 St. Gallen, Switzerland.
Darius HildebrandDepartment of Ophthalmology, Cantonal Hospital of St. Gallen, 9007 St. Gallen, Switzerland.
Wolfgang BergerInstitute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.ORCID 0000-0002-0370-3815
Christina Gerth-KahlertDepartment of Ophthalmology, University Hospital of Zurich, 8091 Zurich, Switzerland.ORCID 0000-0001-6298-615X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital cataracts (CCs) are a leading cause of preventable childhood blindness, with genetic factors playing a crucial role in their etiology. Nance-Horan syndrome (NHS) is a rare X-linked dominant disorder associated with CCs but is often underdiagnosed due to variable expressivity, particularly in female carriers.

Indexed as

congenital cataractGJA8Nance–Horan syndromeNGSNHSwhole-exome sequencing

Identifiers

PMID40868138
PMCPMC12383364

What Socratic holds

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LicenceCC BY
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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 Socratic graph.