Retinoschisis and Norrie disease: a missing link.

doi:10.1186/s13104-021-05617-5

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

Retinoschisis and Norrie disease: a missing link.

BMC research notes - 26 May 2021

Rajendran Rahini, Sudha Dhandayuthapani, Chidambaram Subbulakshmi, Nagarajan Hemavathy, Vetrivel Umashankar, Arunachalam Jayamuruga Pandian

Abstract excerpt

OBJECTIVE: Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 and NDP genes respectively. Both are likely to be monogenic and no locus heterogeneity has been reported. However, there are reports showing overlapping features of Norrie disease and retinoschisis in a NDP knock-out mouse model and also the involvement of both the genes in retinoschisis patients. Yet,...

Read the complete abstract on PubMed

Topics

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

Share to Blindness

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genetic Diseases, X-Linked

Share to Nervous System Diseases

Share to Retina

Share to Retinal Degeneration

Share to Retinoschisis

Share to Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 34039417
DOI: 10.1186/s13104-021-05617-5
PMCID: PMC8157631

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Retinoschisis and Norrie disease: a missing link.PMID 34039417Read ↗

Retinoschisis and Norrie Disease: A missing linkSemantic proximity Read ↗

Interaction between Retinoschisin and Norrin: Physical or Functional Relationship?Semantic proximity Read ↗

A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).Semantic proximity Read ↗

Putative Role of Norrin in Neuroretinal Differentiation Revealed by bulk and scRNA Sequencing of Human Retinal OrganoidsSemantic proximity Read ↗

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway.Semantic proximity Read ↗

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.Semantic proximity Read ↗

X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?Semantic proximity Read ↗

Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India.Semantic proximity Read ↗

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular SyndromeSemantic proximity Read ↗

Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.Semantic proximity Read ↗

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