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

doi:10.1007/s10633-023-09959-2

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

Community

Back to search

Article

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

Documenta ophthalmologica. Advances in ophthalmology - 1 Feb 2024

Azevedo Lorrana Souza, Alvarez Márcio Augusto Moraes, Botelho Gabriel Izan Santos, Rosa Alexandre Antônio Marques, Souza Givago Silva

Abstract excerpt

PURPOSE: In this study, we report a case of a young adult with X-linked juvenile retinoschisis (XLRS) with a rare pathogenic variant in the RS1 gene (c.522 + 2 T > A). METHODS: Ophthalmological evaluation, optical coherence tomography, full-field and multifocal electroretinograms and extensive genetic screening of genes related to visual loss were carried out in the participant. RESULTS: Clinical ophthalmological...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Fovea Centralis

Share to Mutation

Share to Retina

Share to Retinoschisis

Share to Tomography, Optical Coherence

Share to Young Adult

Source

Open in PubMed

Identifiers

PMID: 38172268
DOI: 10.1007/s10633-023-09959-2

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene.PMID 38172268Read ↗

The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.Semantic proximity Read ↗

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.Semantic proximity Read ↗

Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.Semantic proximity Read ↗

Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population.Semantic proximity Read ↗

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

X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation.Semantic proximity Read ↗

Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis PatientsSemantic proximity Read ↗

Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.Semantic proximity Read ↗

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

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.Semantic proximity Read ↗

X-Linked Retinoschisis without Macular Retinoschisis: A New RS1 Mutation.Semantic proximity Read ↗

Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.Semantic proximity Read ↗

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