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

Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome

6 Apr 2024

Abstract excerpt

Purpose Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the FBN1 gene. In addition to typical phenotypes such as ectopia lentis and aortic dilation, MFS patients are prone to ocular posterior segment abnormalities, including retinal detachment, maculopathy, and posterior staphyloma. This study aims to investigate the correlations between FBN1 genotype and posterior segment...

Read the complete abstract on PubMed

Topics

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

Share to Connective tissue disorders research
Share to Intraocular Surgery and Lenses
Share to TGF-β signaling in diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38840780
DOI: 10.1016/j.xops.2024.100526

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

Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan SyndromePMID 38840780Read ↗

[Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome].Semantic proximity Read ↗

Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.Semantic proximity Read ↗

Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.Semantic proximity Read ↗

Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi ArabiaSemantic proximity Read ↗

Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.Semantic proximity Read ↗

Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.Semantic proximity Read ↗

Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.Semantic proximity Read ↗

[Clinical features and genetic analysis for PAX6-associated ocular diseases].Semantic proximity Read ↗

Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.Semantic proximity Read ↗

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevanceSemantic proximity Read ↗

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