Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome.

JAMA ophthalmology - 1 Sept 2024

Bedoukian Emma C, Forbes Grace, Scoles Drew

Abstract excerpt

Importance: Previous studies have identified familial exudative vitreoretinonpathy (FEVR) in patients with CTNNB1 syndrome based on severe congenital ocular phenotypes. However, ophthalmoscopy may not be sufficient to detect vision-threatening vitreoretinopathy in all patients. Objective: To report a consecutive retrospective case series of 11 patients with CTNNB1 variants who had previously unremarkable...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to beta Catenin
Share to Eye Diseases, Hereditary
Share to Familial Exudative Vitreoretinopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Infant

Share to Ophthalmoscopy

Share to Retinal Diseases

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 39145965
DOI: 10.1001/jamaophthalmol.2024.2847
PMCID: PMC11327901

Genes

CTNNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome.PMID 39145965Read ↗

Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.Semantic proximity Read ↗

Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.Semantic proximity Read ↗

Comparisons of Genetic and Clinical Findings in Patients with Syndromic to Non-Syndromic Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype.Semantic proximity Read ↗

Highly asymmetric early presentation of FEVR requiring enucleation.Semantic proximity Read ↗

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report.Semantic proximity Read ↗

Familial exudative vitreoretinopathy caused by CTNNB1 gene mutation in a Chinese family: A case reportSemantic proximity Read ↗

Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy.Semantic proximity Read ↗

Underlying Disease in Atypical Retinopathy of Prematurity.Semantic proximity Read ↗

Reaching a FEVR Pitch: A Case Series of Familial Exudative Vitreoretinopathy in Northern Ireland.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.