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

Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation.

Ophthalmic genetics - 1 Jun 2012

Xu Fei, Sui Ruifang, Dong Fangtian

Abstract excerpt

BACKGROUND: A Chinese family with X-linked juvenile retinoschisis (XLRS) was identified. The purpose of this study was to identify genetic defects in this family and to investigate the visual function during the progression of the disease in the proband from childhood to adulthood. METHODS: The family history was collected and the proband underwent regular ophthalmologic examinations. Venous blood was collected...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography
Share to Eye Proteins
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Retinoschisis

Share to Tomography, Optical Coherence

Share to Ultrasonography

Share to Visual Acuity

Source

Identifiers

PMID: 22171610
DOI: 10.3109/13816810.2011.628359

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

Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation.PMID 22171610Read ↗

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

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

R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.Semantic proximity Read ↗

X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.Semantic proximity Read ↗

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.Semantic proximity Read ↗

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

[Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis].Semantic proximity Read ↗

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.Semantic proximity Read ↗

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

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in ChinaSemantic proximity Read ↗

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.Semantic proximity Read ↗

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