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

A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy.

Ophthalmic genetics - 1 Feb 2026

Abraham Joseph R, Zhao Alison, Debenedictis Meghan J, Traboulsi Elias I, Sears Jonathan E

Abstract excerpt

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a category of vitreoretinal diseases with a broad phenotypic spectrum ranging from subclinical peripheral vascular changes to total retinal detachments. We report the clinical and molecular genetic findings in a 43-year-old patient whose ocular findings were consistent with retinitis pigmentosa but genetic testing indicative of FEVR. METHODS: The patient...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Familial Exudative Vitreoretinopathies

Share to Fluorescein Angiography

Share to Pedigree

Share to Phenotype

Share to Retinitis Pigmentosa

Share to Tetraspanins

Source

Identifiers

PMID: 41265400
DOI: 10.1080/13816810.2025.2560624

Genes

TSPAN12

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

A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy.PMID 41265400Read ↗

Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.Semantic proximity Read ↗

Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Whole Exome Sequencing Revealed Three Novel Variants in TSPAN12 and LRP5 Genes for Two Families with Familial Exudative VitreoretinopathySemantic proximity Read ↗

Asymptomatic adults in a single family with familial exudative vitreoretinopathy and TSPAN12 variant.Semantic proximity Read ↗

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.Semantic proximity Read ↗

A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

LONG-TERM CLINICAL OUTCOMES AND GENOTYPE-PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTER.Semantic proximity Read ↗

A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.Semantic proximity Read ↗

Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo.Semantic proximity Read ↗

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