ReviewProgress in retinal and eye research2012
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Review in Progress in retinal and eye research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02416622 (A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Retinoschisin), which is not on this map. Cited by 148 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Retinoschisin (rAAV2tYF-CB-hRS1) in Patients With X-linked Retinoschisis
Who cites it
148 citing papers in PubMed, 2 syntheses or guidelines pooled it, 329 citations in OpenAlex.
- Electronegative electroretinography in inherited retinal disease: a systematic review of genotype-phenotype correlations.BMC ophthalmology · 2026Pooled it
- The Road towards Gene Therapy for X-Linked Juvenile Retinoschisis: A Systematic Review of Preclinical Gene Therapy in Cell-Based and Rodent Models of XLRS.International journal of molecular sciences · 2024Pooled it
- Peripheral inner retinal dimples observed on ultrawide field optical coherence tomography angiography in X-linked retinoschisis.American journal of ophthalmology case reports · 2026Article
- Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.Human genetics · 2026Article
- Laterally spreading AAV.SPR enables safe and efficient RS1 delivery to the macula after peripheral subretinal injection.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis.Acta ophthalmologica · 2026Article
- Current Advances and Applications of Retinal Organoids.Neuroscience bulletin · 2026Review
- Upregulated TRPM1 is associated with apoptosis in Rs1 knockout mice and in ARPE19 cells through increased intracellular calcium.Scientific reports · 2026Article
- Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Unveiling ZNF124 as a novel determinant in neurodegeneration: orchestration of photoreceptor homeostasis through MSX2 transcriptional regulation.Cell death & disease · 2026Article
- Profound Effect of Light on Cysts in X-Linked Retinoschisis.Investigative ophthalmology & visual science · 2026Article
- Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development.Developmental neurobiology · 2026Article
- Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort.Frontiers in genetics · 2026Article
- ---Pars plana vitrectomy in congenital X-linked retinoschisis: a scoping review.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Article
- Progress of iPSC-derived retinal organoids in the study of inherited retinal diseases.Orphanet journal of rare diseases · 2025Review
- Deep learning model for detecting cystoid fluid collections on optical coherence tomography in X-linked retinoschisis patients.Acta ophthalmologica · 2025Article
- Artificial intelligence-quantified schisis volume as a structural endpoint for gene therapy clinical trials in X-linked retinoschisis.Acta ophthalmologica · 2025Article
- Article
- A Novel AAV Capsid-Mediated RS1 Gene Therapy Restored Retinal Function to Wild-Type Levels in Rs1R213W Mouse Model.Investigative ophthalmology & visual science · 2025Article
- A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.Acta ophthalmologica · 2025Article
88 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG). The RS1 gene (MIM 300839) associated with the disease encodes retinoschisin, a 224 amino acid protein containing a discoidin domain as the major structural unit, an N-terminal cleavable signal sequence, and regions responsible for subunit oligomerization. Retinoschisin is secreted from retinal cells as a disulphide-linked homo-octameric complex which binds to the surface of photoreceptors and bipolar cells to help maintain the integrity of the retina. Over 190 disease-causing mutations in the RS1 gene are known with most mutations occurring as non-synonymous changes in the discoidin domain. Cell expression studies have shown that disease-associated missense mutations in the discoidin domain cause severe protein misfolding and retention in the endoplasmic reticulum, mutations in the signal sequence result in aberrant protein synthesis, and mutations in regions flanking the discoidin domain cause defective disulphide-linked subunit assembly, all of which produce a non-functional protein. Knockout mice deficient in retinoschisin have been generated and shown to display most of the characteristic features found in XLRS patients. Recombinant adeno-associated virus (rAAV) mediated delivery of the normal RS1 gene to the retina of young knockout mice result in long-term retinoschisin expression and rescue of retinal structure and function providing a 'proof of concept' that gene therapy may be an effective treatment for XLRS.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.