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

X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.

Investigative ophthalmology & visual science - 29 Nov 2011

Bowles Kristen, Cukras Catherine, Turriff Amy, Sergeev Yuri, Vitale Susan, Bush Ronald A, Sieving Paul A

Abstract excerpt

PURPOSE: To assess the effect of age and RS1 mutation on the phenotype of X-linked retinoschisis (XLRS) subjects using the clinical electroretinogram (ERG) in a cross-sectional analysis. METHODS: Sixty-eight XLRS males 4.5 to 55 years of age underwent genotyping, and the retinoschisis (RS1) mutations were classified as less severe (27 subjects) or more severe (41 subjects) based on the putative impact on the...

Read the complete abstract on PubMed

Topics

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Age Factors
Share to Child, Preschool
Share to Cross-Sectional Studies
Share to Electroretinography
Share to Eye Proteins
Share to Retina
Share to Retinoschisis
Share to Severity of Illness Index

Source

Open in PubMed Open full text

Identifiers

PMID: 22039241
DOI: 10.1167/iovs.11-8115
PMCID: PMC3302432

Genes

ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.PMID 22039241Read ↗

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.Semantic proximity Read ↗

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.Semantic proximity Read ↗

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patientsSemantic proximity Read ↗

A phenotype-genotype correlation study of X-linked retinoschisis.Semantic proximity Read ↗

Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene.Semantic proximity Read ↗

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.Semantic proximity Read ↗

Phenotypic characterization of X-linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables.Semantic proximity Read ↗

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?Semantic proximity Read ↗

X linked retinoschisis.Semantic proximity Read ↗

Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.Semantic proximity Read ↗

X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.Semantic proximity Read ↗

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