Discover Community Create You

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 genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2.

Ophthalmic genetics - 1 Dec 2025

Lindquist Mark, Hernandez-Lopez Viridiana, Mustafi Debarshi

Abstract excerpt

INTRODUCTION: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder most commonly due to pathogenic variants in the transforming growth factor beta receptor genes TGFBR1 and TGFBR2. There have been reports of a few sporadic cases of LDS patients exhibiting a vitreoretinopathy phenotype due to pathogenic variants in the TGFBR2 gene. CASE PRESENTATION: We report a 13-year-old female...

Read the complete abstract on PubMed

Topics

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

Share to Familial Exudative Vitreoretinopathies
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Loeys-Dietz Syndrome

Share to Mutation, Missense

Share to Receptor, Transforming Growth Factor-beta Type II

Share to Retinal Diseases

Share to Visual Acuity

Source

Identifiers

PMID: 41024485
DOI: 10.1080/13816810.2025.2565633

Genes

TGFBR2
TGFBR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2.PMID 41024485Read ↗

Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome.Semantic proximity Read ↗

Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.Semantic proximity Read ↗

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophiesSemantic proximity Read ↗

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.Semantic proximity Read ↗

Novel pathogenic TGFBR1 variant identified in an adult with acquired retinal arterial macroaneurysm in loeys-dietz syndrome.Semantic proximity Read ↗

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.Semantic proximity Read ↗

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature DataSemantic proximity Read ↗

Ectopia lentis in Loeys-Dietz syndrome type 4.Semantic proximity Read ↗

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.Semantic proximity Read ↗

Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.Semantic proximity Read ↗

A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.Semantic proximity Read ↗

Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities.Semantic proximity Read ↗

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