ArticleHuman molecular genetics2019
Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- 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
- Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.Human genetics · 2026Article
- Modulation of Systemic Osmolarity Alters Retinal Thickness and Schisis Cavities Without Blood Retinal Barrier Disruption in Rs1 Knockout Mice.Investigative ophthalmology & visual science · 2026Article
- Microglial phagocytosis of bipolar cells triggers inner retinal degeneration in Rs1-KO mice.Cell communication and signaling : CCS · 2026Article
- Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development.Developmental neurobiology · 2026Article
- Intravitreal adenine base editing of RS1 improves vision in a preclinical mouse model of retinoschisis.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Identifying Multiomic Signatures of X-Linked Retinoschisis-Derived Retinal Organoids and Mice Harboring Patient-Specific Mutation Using Spatiotemporal Single-Cell Transcriptomics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Article
- A Comparative Analysis of Models for AAV-Mediated Gene Therapy for Inherited Retinal Diseases.Cells · 2024Review
- Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.Stem cell research & therapy · 2024Article
- Photoreceptor deficits appear at eye opening in Rs1 mutant mouse models of X-linked retinoschisis.Experimental eye research · 2024Article
- Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.Stem cell research & therapy · 2023Review
- Rs1hGene therapy · 2022Article
- Article
- Contrast Sensitivity and Equivalent Intrinsic Noise in X-Linked Retinoschisis.Translational vision science & technology · 2022Article
- Longitudinal Photoreceptor Phenotype Observation and Therapeutic Evaluation of a Carbonic Anhydrase Inhibitor in a X-Linked Retinoschisis Mouse Model.Frontiers in medicine · 2022Article
- Full-Field Electroretinography, Pupillometry, and Luminance Thresholds in X-Linked Retinoschisis.Investigative ophthalmology & visual science · 2020Article
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
Abstract
X-linked juvenile retinoschisis (XLRS) is an early-onset inherited condition that affects primarily males and is characterized by cystic lesions of the inner retina, decreased visual acuity and contrast sensitivity and a selective reduction of the electroretinogram (ERG) b-wave. Although XLRS is genetically heterogeneous, all mouse models developed to date involve engineered or spontaneous null mutations. In the present study, we have studied three new Rs1 mutant mouse models: (1) a knockout with inserted lacZ reporter gene; (2) a C59S point mutant substitution and (3) an R141C point mutant substitution. Mice were studied from postnatal day (P15) to 28 weeks by spectral domain optical coherence tomography and ERG. Retinas of P21-22 mice were examined using biochemistry, single cell electrophysiology of retinal ganglion cells (RGCs) and by immunohistochemistry. Each model developed intraretinal schisis and reductions in the ERG that were greater for the b-wave than the a-wave. The phenotype of the C59S mutant appeared less severe than the other mutants by ERG at adult ages. RGC electrophysiology demonstrated elevated activity in the absence of a visual stimulus and reduced signal-to-noise ratios in response to light stimuli. Immunohistochemical analysis documented early abnormalities in all cells of the outer retina. Together, these results provide significant insight into the early events of XLRS pathophysiology, from phenotype differences between disease-causing variants to common mechanistic events that may play critical roles in disease presentation and progression.
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