Retinosquise ligada ao X

Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)

NCT07502664

ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis

Fase II

NCT05878860

Safety and Efficacy of a Single Subretinal Injection of JWK002 Gene Therapy in Subjects With X-linked Retinoschisis(XLRS)

NCT06345898

Safety and Efficacy Study of LX103 Treatment of X-Linked Retinoschisis (XLRS)

NCT05814952

Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis

NCT00055029

EM ANDAMENTO

🟢 Recrutando agora

4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT07502664 · Development and Evaluation of Functional Visual Field and Na…Recrutando

NCT05878860 · ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschis…Recrutando

PHASE1, PHASE2

NCT06345898 · Safety and Efficacy of a Single Subretinal Injection of JWK0…Recrutando

EARLY_PHASE1

NCT05814952 · Safety and Efficacy Study of LX103 Treatment of X-Linked Ret…Recrutando

NA

Outros ensaios clínicos

12 ensaios clínicos encontrados, 6 ativos.

Distribuição por fase

NCT00055029 · Clinical and Genetic Studies of X-Linked Juvenile Retinoschi…Ativo

NCT06289452 · Safety and Efficacy Study of IVB102 Injection in Subjects Wi…Ativo

EARLY_PHASE1

NCT06066008 · Safety and Efficacy Study of Novel Gene Therapy ZM-01 for X-…Concluído

EARLY_PHASE1

NCT06114537 · The AXIS Study: the Efficacy of Acetazolamide for the Treatm…Concluído

PHASE2

NCT02317887 · Study of RS1 Ocular Gene Transfer for X-linked RetinoschisisConcluído

PHASE1, PHASE2

NCT02416622 · Safety and Efficacy of rAAV-hRS1 in Patients With X-linked R…Concluído

PHASE1, PHASE2

NCT03354403 · Mothers Experiences With X-linked Retinoschisis Compared to …Concluído

NCT02331173 · Clinical Evaluation of Patients With X-linked RetinoschisisConcluído

Ver todos no ClinicalTrials.gov

🧪 Está conduzindo uma pesquisa?

Divulgue para pacientes e familiares que acompanham esta doença.

Divulgar pesquisa →

Publicações mais relevantes

🥈Melhor nível de evidência: Observacional

Timeline de publicações

312 papers (10 anos)

#1

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 Therapy2026 Mar 11

Mutations in RS1 are associated with X-linked retinoschisis (XLRS), a common cause of juvenile macular degeneration in males. Schisis cavities in the central retina of these patients have hampered submacular delivery with conventional adeno-associated viruses (AAVs). Clinical trials employing intravitreally injected AAVs showed a lack of efficacy and inflammation. Here, we demonstrate, in non-human primate (NHP) retina, that AAV.SPR, a laterally spreading capsid, transduced photoreceptors in the macula/fovea without the need for central retinal detachment, enabling transgene expression multiple millimeters beyond the subretinal injection (SRI) bleb margins. Peripheral SRI of AAV.SPR-hGRK1-RS1 resulted in robust and properly localized RS1 expression in NHP fovea. Despite being a secreted protein, biodistribution of RS1 remains confined to the area of AAV-RS1 transduction. Having established feasibility for the approach, we performed preclinical proof-of-concept, safety, and efficacy studies in support of "ATSN-201" (NCT05878860). In RS1KO mice, a "hybrid" efficacy/safety study demonstrated dose-dependent improvements in retinal function and structure and proper localization of RS1 following treatment with ATSN-201. A good laboratory practice (GLP) toxicology study in NHPs established safety at the highest dose evaluated. The enhanced transduction and lateral spreading ability of AAV.SPR make it an attractive option for treating inherited retinal diseases including, but not limited to, XLRS.

#2

Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.

BMJ open2026 Feb 27

To evaluate the efficacy and safety of advanced therapeutic approaches for inherited retinal disease (IRD) using evidence from systematic reviews and meta-analyses. Umbrella review. We searched for Epistemonikos, PubMed, Scopus, PsycInfo, Google Scholar, Joanna Briggs Institute Evidence Synthesis, the Cochrane Database of Systematic Reviews and Database of Abstracts of Reviews of Effects from inception to November 2024. This included English-language systematic review and meta-analysis assessing advanced therapies in patients with IRD (including congenital retinal dystrophies, retinal dystrophies, retinitis pigmentosa (RP), Stargardt disease, X linked RP, achromatopsia, cone-rod dystrophy, choroideraemia and X linked retinoschisis). Reviews that did not meet the methodological quality threshold were excluded. Two reviewers independently screened and extracted the data, with disagreements resolved by consensus. Findings were synthesised narratively due to the substantial overlap of primary studies. Six systematic reviews and meta-analyses published from 2020 onwards were included, comprising between 6 and 21 primary studies per review. The therapies evaluated included gene therapy, cell-based therapy and stem cell-based interventions. Reported effect estimates showed modest to clinically meaningful improvements in best-corrected visual acuity and retinal structural outcomes in selected IRD subtypes, although effect sizes varied widely across interventions and conditions. The GRADE certainty of evidence ranged from moderate to low, reflecting bias, imprecision and heterogeneity risks. Substantial overlap of primary studies was observed (corrected covered area = 28.9%), precluding quantitative pooling across reviews. The findings suggest notable improvements in visual acuity, retinal structure and other critical outcomes, with therapies such as cell therapy, gene therapy and stem cell therapy showing promising results in enhancing treatment efficacy. Although there are examples of successes with supportive evidence, the overall evidence is not sufficiently strong to make general recommendations, as studies still need to be evaluated on a case-by-case basis. Further high-quality, large-scale randomised controlled trials are needed to better confirm their efficacy and safety.

#3

Profound Effect of Light on Cysts in X-Linked Retinoschisis.

Investigative ophthalmology & visual science2026 Feb 02

X-linked retinoschisis (XLRS), caused by RS1 pathogenic variants, leads to macular dystrophy. Patients with XLRS show diurnal changes in optical coherence tomography (OCT), with more schisis in the morning. We studied diurnal variation in Rs1-knockout (KO) mice retinal structure and electrical function. Rs1-KO mice 2.5 to 4 months old (MO) had electroretinogram (ERG), OCT, and intraocular pressure (IOP) measurements collected at 5 AM and 5 PM on different days and under different experimental conditions. Mice were maintained under standard 12-hour light/dark cycle, reversed 12-hour light/dark cycle, continuous light, or continuous darkness. At study endpoint, eyes were collected and fixed for immunohistochemistry or harvested for Western blot analysis. Extended light exposure resolved cysts completely and improved ERG b-wave amplitudes, whereas darkness worsened schisis and ERG function. Synaptic staining confirmed disrupted photoreceptor-bipolar connections in dark-exposed retinas and reorganization after light exposure, without changes in synaptic protein expression or rhodopsin localization. IOP still followed a diurnal pattern under constant light or dark, whereas cyst fluctuation correlated with lighting rather than time of day. Initial findings suggested a diurnal rhythm in cyst size but reversed light cycle experiments showed that light exposure-not time of day-drives retinal changes in Rs1-KO mice. RS1-deficient retinas are vulnerable to darkness, whereas light exposure preserves retinal structure and function. To ensure valid OCT and ERG comparisons in XLRS, measurements should be time- and lighting-stamped. Dark-adapted conditions may best reveal treatment effects. Controlled light exposure may be a therapeutic option for patients with XLRS.

#4

Microglial phagocytosis of bipolar cells triggers inner retinal degeneration in Rs1-KO mice.

Cell communication and signaling : CCS2026 Jan 28

X-linked juvenile retinoschisis (XLRS) is a hereditary retinal disorder caused by mutations in the RS1 gene that leads to the formation of cavities in the inner nuclear layer (INL) and progressive vision loss, characterized by a disproportionate reduction of the b-wave compared to the a-wave in electroretinography (ERG). While previous research has largely focused on photoreceptor degeneration in XLRS, the specific roles of other cell populations, particularly bipolar cells and microglia, in the early stages of the disease have remained less well understood. Thus, this study aimed to elucidate the early cellular and molecular mechanisms of retinal degeneration in XLRS, with a particular focus on the role of microglia and bipolar cells. Retinal structure and function were assessed in CRISPR/Cas9 Rs1-exon2 knockout (Rs1−/y) mice at 8 and 24 weeks using histology, spectral-domain optical coherence tomography (SD-OCT), ERG, and optokinetic response. To analyze cell-specific changes, we performed TUNEL assay, immunofluorescence, flow cytometry, and single-cell RNA sequencing (scRNA-seq) with trajectory analysis. Rs1−/y mice successfully recapitulated classic XLRS features, including INL schisis, reduced b/a-wave ERG ratio, and early vision loss. TUNEL assay and histological analysis revealed that cell death initiated in the INL at 8 weeks and progressed to the outer nuclear layer (ONL), while microglia displayed a progressive transition from a ramified to an ameboid morphology. scRNA-seq demonstrated a significant loss of cone bipolar cells, especially OFF-cone subtypes, which preceded photoreceptor degeneration. Importantly, microglial activation and enhanced phagocytosis of OFF-cone bipolar cells were observed prior to photoreceptor loss. This phagocytic process was found to be mediated by phosphatidylserine and complement C3b, independent of caspase-3 pathways. Our findings demonstrate that bipolar cell degeneration, driven by microglial phagocytosis of stressed yet viable OFF-cone bipolar cells, is an early and critical pathological event in XLRS that precedes photoreceptor loss. This process involves "eat-me" signals and complement activation independent of classical apoptosis. These results provide a new perspective on XLRS pathogenesis and suggest that therapeutic strategies targeting bipolar cells and microglial activity could offer promising avenues for early intervention. The online version contains supplementary material available at 10.1186/s12964-026-02692-8.

#5

Progression in X-Linked Retinoschisis: A Longitudinal Study Defining Quantitative Biomarkers and Their Implications for Gene Therapy.

American journal of ophthalmology2026 Feb 26

To delineate age-related changes in visual, structural, and electrophysiologic measures in X-linked retinoschisis (XLRS) and to assess automated cyst-cavity volume (CCV) as a quantitative biomarker. Single-center mixed retrospective-prospective cohort study. This study included 440 visits from 107 individuals with clinically diagnosed XLRS and confirmed pathogenic RS1 variants. Comprehensive ophthalmic evaluations were performed at baseline and during follow-up, including visual acuity (VA), fundus examination, electroretinogram (ERG), and spectral-domain optical coherence tomography (SD-OCT), with microperimetry (MP) conducted in a subset of patients. Among SD-OCT parameters, CCV was automatically quantified using self-developed DEEP-OCT-CCSEG system. Annual progression rates were estimated using restricted cubic spline or linear regression models, and interocular agreement was evaluated with Bland-Altman and intraclass correlation analyses. In this cohort, 70% patients presented by age 10. The median age at first examination was 7.3 years (range, 1.9-78.5) over a mean follow-up of 1.9 years. Baseline means were: VA 0.82 ± 0.47 logMAR, central foveal thickness (CFT) 495 ± 186 µm, and CCV 1.54 ± 1.16 mm³. Genetic analysis identified 64 distinct RS1 variants, including 5 that were novel. Longitudinally, visual acuity followed a triphasic pattern: slight improvement in childhood, a prolonged plateau through mid-adulthood, and a more rapid decline thereafter, with Kaplan-Meier analysis projecting 40% of patients will be blind by age 60. Scotopic ERG a- and b-wave amplitudes peaked in early childhood before declining with age, while the b/a ratio gradually decreased. In OCT, CFT showed a modest, significant age-related decrease. In contrast, CCV followed a non-linear age-related pattern, increasing to a peak in the third decade of life before progressively declining. In this XLRS cohort, most patients showed gradual structural and functional decline beginning in the second decade of life, suggesting an optimal therapeutic window within early adulthood. By applying CCV as a quantitative biomarker in a large-scale longitudinal setting for the first time, this study quantitatively characterized 3-dimensional retinal remodeling and delineated age-related structural changes in XLRS. These findings refine the understanding of XLRS natural history and provide a robust framework for therapeutic evaluation and clinical trial design.

Publicações recentes

Upregulated TRPM1 is associated with apoptosis in Rs1 knockout mice and in ARPE19 cells through increased intracellular calcium.

Sci Rep2026 Apr 6

Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families.

BMC Ophthalmol2026 Mar 16

Laterally spreading AAV.SPR enables safe and efficient RS1 delivery to the macula after peripheral subretinal injection.

💬 Opinião

Mol Ther2026 Mar 11

Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.

BMJ Open2026 Feb 27

Progression in X-Linked Retinoschisis: A Longitudinal Study Defining Quantitative Biomarkers and Their Implications for Gene Therapy.

🥈 Observacional

Am J Ophthalmol2026 Feb 26

Ver todas no PubMed

📚 EuropePMC345 artigos no totalmostrando 197

Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families.

Molecular therapy : the journal of the American Society of Gene Therapy

Laterally spreading AAV.SPR enables safe and efficient RS1 delivery to the macula after peripheral subretinal injection.

Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.

BMJ open

American journal of ophthalmology

Progression in X-Linked Retinoschisis: A Longitudinal Study Defining Quantitative Biomarkers and Their Implications for Gene Therapy.

American journal of ophthalmology

Bullous Peripheral Retinoschisis: Structural Biomarker for Complications in X-Linked Retinoschisis via Ultrawide-Field Swept Source Optical Coherence Tomography.

Profound Effect of Light on Cysts in X-Linked Retinoschisis.

Frontiers in ophthalmology

Case Report: Preventing X-linked retinoschisis transmission via MARSALA-based PGT-M.

Cell communication and signaling : CCS

Microglial phagocytosis of bipolar cells triggers inner retinal degeneration in Rs1-KO mice.

Presumed X-Linked Retinoschisis in a 3-Month-Old Baby Girl: A Case Report.

Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

Clinical characteristics and management outcomes of pediatric full-thickness macular holes.

OCT Angiography in X-Linked Retinoschisis.

JAMA ophthalmology

Frontiers in pharmacology

Case Report: Carbonic anhydrase inhibitor brinzolamide dramatically improved the morphology and also function of a patient with RS1 mutation.

Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.

Case series: Transient neonatal macular retinoschisis - a developmental phenomenon in term infants.

Eye (London, England)

Documenta ophthalmologica. Advances in ophthalmology

Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.

Ocular immunology and inflammation

Non-Neoplastic Disorders Mimicking Posterior Segment Inflammation.

International journal of biological macromolecules

Dual delivery of supramolecular nanoparticle-carried minicircle donor DNA with Cas9/gRNA improved HITI knock-in efficiency in X-linked juvenile retinoschisis.

Transient Resolution of Foveal Schisis Following Macula-Involving Retinal Detachment in Juvenile X-Linked Retinoschisis.

One down but many more to go: the state of gene therapy for inherited retinal disease.

Regenerative medicine

Long-term results of conservative and surgical treatment of congenital x-linked retinoschisis: A retrospective multicentre international study.

Coats-Like Response in X-Linked Retinoschisis.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

---Pars plana vitrectomy in congenital X-linked retinoschisis: a scoping review.

SAGE open medical case reports

Retinal detachment associated with the splice site mutation c.53-1G>A in the RS1 gene: A case report and review of the literature.

Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study.

Immune landscape in children with X-linked retinoschisis.

BMC immunology

Advances in Precision Therapeutics and Gene Therapy Applications for Retinal Diseases: Impact and Future Directions.

Dark Rearing Does Not Alter Developmental Retinoschisis Cavity Formation in Rs1 Gene Knockout Rat Model of X-Linked Retinoschisis.

Spontaneous Resolution of Bullous X-Linked Retinoschisis.

A novel deletion-insertion variant of RS1 in X-linked retinoschisis.

The British journal of ophthalmology

Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.

Bilateral Macular Ectopia and Folds in X-Linked Retinoschisis.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Understanding the phenotype of genetically associated electronegative ERG retinopathies: comparing the full-field ERG b:a ratio.

Functional Vision Assessment Over 4 Years in USH2A Using the Veteran Affairs Low-Vision Visual Functioning Questionnaire.

Multimodal Imaging of a Patient With X-Linked Retinoschisis and Bilateral Coats-Like Vasculopathy.

Archivos de la Sociedad Espanola de Oftalmologia

New OCT sign in X-linked retinoschisis without macular schisis: "Inverted roof fovea".

A case of bilateral stellate nonhereditary idiopathic foveomacular retinoschisis with 14-month follow-up: clinical features, OCT findings and treatment outcome.

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology

[Clinical characteristics of the vascular changes in pediatric patients with congenital retinoschisis].

AI image analysis tools quantify schisis cystic volume in XLRS retinal dysmorphology.

Deep learning model for detecting cystoid fluid collections on optical coherence tomography in X-linked retinoschisis patients.

Comparison of retinal structure and schisis location in X-linked retinoschisis and enhanced S-cone syndrome.

Artificial intelligence-quantified schisis volume as a structural endpoint for gene therapy clinical trials in X-linked retinoschisis.

International journal of ophthalmology

Angle closure glaucoma in a patient with X-linked retinoschisis: a case report.

Disparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the RS1 gene.

American journal of ophthalmology

Congenital X-Linked Retinoschisis in an Indian Population: A Single Center Study in 70 Eyes.

Advances in experimental medicine and biology

Frequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases.

Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation.

Journal of clinical medicine

Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.

Kir4.1 and Aqp4 Contribution to Schisis Cystic Water Accumulation and Clearance in the Rs1 Exon-1 Del XLRS Rat Model.

The Evaluation of Ocular Posterior Segment Findings in 5527 Term Infants Using Smartphone-Based Fundus Imaging.

Journal of ophthalmology

Review: Clinical findings and genetic characterization of children affected with X-linked retinoschisis in the Spanish population.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Identifying Multiomic Signatures of X-Linked Retinoschisis-Derived Retinal Organoids and Mice Harboring Patient-Specific Mutation Using Spatiotemporal Single-Cell Transcriptomics.

An osmolarity dependent mechanism partially ameliorates retinal cysts and rescues cone function in a mouse model of X-linked retinoschisis.

A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.

Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Family of juvenile X-linked retinoschisis with varied presentation: a case series with RS1 genetic analysis.

Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes.

Introduction of an RS1 mutation causative variant consistent with identified XLRS patient using CRISPR/Cas9 technology in normal iPSC.

Peripapillary retinal nerve fibre layer thinning in patients with X-linked retinoschisis.

BMJ open ophthalmology

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Investigating the role of Caspase-1 in a mouse model of Juvenile X-linked Retinoschisis.

Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.

Stem cell research & therapy

Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.

The British journal of ophthalmology

Choroidal neovascularisation secondary toX-linked retinoschisis.

Intravitreal Delivery of rAAV2-hSyn-hRS1 Results in Retinal Ganglion Cell-Specific Gene Expression and Retinal Improvement in the Rs1-KO Mouse.

Human gene therapy

Japanese journal of ophthalmology

Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.

Experimental eye research

Photoreceptor deficits appear at eye opening in Rs1 mutant mouse models of X-linked retinoschisis.

Expert opinion on drug metabolism & toxicology

Drug interactions of carbonic anhydrase inhibitors and activators.

The dose-response relationship of subretinal gene therapy with rAAV2tYF-CB-hRS1 in a mouse model of X-linked retinoschisis.

Therapeutic advances in ophthalmology

Early recurrence of macular schisis in X-linked retinoschisis treated with vitrectomy for rhegmatogenous retinal detachment under silicone oil: case report and brief literature review.

Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.

Biochemistry and biophysics reports

Intravitreal injection of new adeno-associated viral vector: Enhancing retinoschisin 1 gene transduction in a mouse model of X-linked retinoschisis.

Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.

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

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Clinical & experimental optometry

Optical coherence tomography in children with inherited retinal disease.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society

A visually guided swim assay for mouse models of human retinal disease recapitulates the multi-luminance mobility test in humans.

A Literary Pediatric Retina Fellowship With Michael T. Trese, MD.

Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.

Visual Acuity-Related Outer Retinal Structural Parameters on Swept Source Optical Coherence Tomography and Angiography in XLRS Patients and Carriers.

Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis.

Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis.

Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene.

Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.

AN EIGHT-YEAR RETROSPECTIVE STUDY OF THE ETIOLOGIES, CLINICAL CHARACTERISTICS, AND VISUAL OUTCOMES OF PEDIATRIC LAMELLAR MACULAR HOLE.

Concurrent Foveoschisis and Atrophy in a Patient With X-Linked Retinoschisis and Type 1 Diabetes Mellitus.

Retinal Detachments in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Surgical Outcomes.

Diagnostics (Basel, Switzerland)

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide.

Bilateral Stellate Nonhereditary Idiopathic Foveomacular Retinoschisis (SNIFR) Incidentally Identified in a Non-Myopic Female.

Cureus

Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes.

Case report: Familial foveal retinoschisis caused by CRB1 gene mutation in a family with recessive inheritance.

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.

Ophthalmology

Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials.

Life (Basel, Switzerland)

Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature.

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.

American journal of medical genetics. Part A

Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India.

Journal of clinical medicine

X-Linked Retinoschisis Masquerading Uveitis.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Diurnal functional and anatomical changes in X-linked retinoschisis.

X-linked Retinoschisis with Near-Normal Macular Structure and Function.

Vasoproliferative Tumor in X-Linked Retinoschisis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Acute angle-closure in juvenile X-linked retinoschisis.

Management of angle-closure glaucoma with X-linked retinoschisis: a case report.

A paradigm shift in the treatment of refractory angle closure glaucoma in a patient with X-linked juvenile retinoschisis.

Retinal honeycomb appearance and its role in patients with X-linked retinoschisis.

Journal of clinical medicine

Electrophysiological Evaluation of Macular Dystrophies.

Widefield Fluorescein Angiography Findings in Pediatric Patients with X-Linked Retinoschisis.

Typical and atypical clinical presentations of X-Linked retinoschisis: A case series and literature review.

Survey of ophthalmology

Posterior Segment Optical Coherence Tomography in Uncooperative Paediatric Patients Using Exo-Illumination and Microscope-Integrated Optical Coherence Tomography.

Cureus

SYMPTOMATIC EARLY-ONSET X-LINKED RETINOSCHISIS: Clinical Presentation and Outcomes.

A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1.

A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

Coral reef: optical coherence tomography angiography in X-linked retinoschisis.

Klinische Monatsblatter fur Augenheilkunde

Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis.

AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis.

PloS one

Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up.

Frontiers in genetics

Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.

Multimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease.

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

XLRS Rat with Rs1-/Y Exon-1-Del Shows Failure of Early Postnatal Outer Retina Development.

Archivos de la Sociedad Espanola de Oftalmologia

X-linked retinoschisis: About a case.

X-linked retinoschisis: OCT-angiography in two brothers from a four-generation family with a p.Arg197Cys pathogenic variant in the RS1 gene.

Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Retinal vasoproliferative tumor as first sign of X-linked retinoschisis in a 12-month-old boy.

EFFICACY OF INNER WALL RETINECTOMY FOR BULLOUS SCHISIS CAVITY HANGING OVER OR THREATENING THE MACULA IN PATIENTS WITH CONGENITAL X-LINKED RETINOSCHISIS.

MACULAR MICROVASCULATURE IN X-LINKED RETINOSCHISIS: Optical Coherence Tomography and Optical Coherence Tomography Angiography Study.

Spatial and Temporal Integration Abnormalities in X-Linked Retinoschisis.

TOPICAL CARBONIC ANHYDRASE INHIBITORS IN THE LONG-TERM TREATMENT OF JUVENILE X-LINKED RETINOSCHISIS.

Non-vasogenic cystoid maculopathies.

The Journal of neuroscience : the official journal of the Society for Neuroscience

Retinoschisin Deficiency Induces Persistent Aberrant Waves of Activity Affecting Neuroglial Signaling in the Retina.

Retinal Proteomic Alterations and Combined Transcriptomic-Proteomic Analysis in the Early Stages of Progression of a Mouse Model of X-Linked Retinoschisis.

Cells

Longitudinal Photoreceptor Phenotype Observation and Therapeutic Evaluation of a Carbonic Anhydrase Inhibitor in a X-Linked Retinoschisis Mouse Model.

Exudative maculopathy in presumed X-linked retinoschisis with review of literature.

Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results.

Arquivos brasileiros de oftalmologia

An atypical early-onset X-linked retinoschisis mimicking uveitis masquerade syndrome.

Retinal Folds as a Clinical Feature of X-Linked Retinoschisis: A Series of Three Cases.

American journal of ophthalmology case reports

Mizuo-Nakamura phenomenon in X-linked retinoschisis.

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters].

Contrast Sensitivity and Equivalent Intrinsic Noise in X-Linked Retinoschisis.

American journal of ophthalmology case reports

Vitreous hemorrhage in X-linked retinoschisis.

Investigation of Correlations Between Optical Coherence Tomography Biomarkers and Visual Acuity in X-Linked Retinoschisis.

Identification of Interphotoreceptor retinoid-binding protein in the Schisis cavity fluid of a patient with congenital X-linked Retinoschisis.

Genetics in medicine : official journal of the American College of Medical Genetics

The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.

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

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.

X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.

Ophthalmology

Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.

Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.

Luminance Thresholds and Their Correlation With Retinal Structure in X-Linked Retinoschisis.

Experimental and therapeutic medicine

Whole-exome sequencing identifies an RS1 variant in a Chinese family with X-linked retinoschisis.

The British journal of ophthalmology

Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.

X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.

Ophthalmology

Journal of vitreoretinal diseases

X-Linked Retinoschisis and a Coats-Like Response in the Setting of Retinopathy of Prematurity.

International ophthalmology clinics

X-linked Retinoschisis and Gene Therapy.

Rs1h-/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation.

Gene therapy

Annals of translational medicine

Gene therapy for inherited retinal diseases.

Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.

Spontaneous resolution of schitic cavities in XLRS.

Biomedical optics express

High-speed and widefield handheld swept-source OCT angiography with a VCSEL light source.

Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights.

Eye (London, England)

Case reports in ophthalmology

CyberKnife Stereotactic Radiotherapy in Secondary Vasoproliferative Tumor of the Retina.

Retinal imaging in inherited retinal diseases.

Annals of eye science

Novel clinical presentation of a CRX rod-cone dystrophy.

BMJ case reports

Molecular genetics of inherited retinal degenerations in Icelandic patients.

Clinical genetics

Molecular therapy : the journal of the American Society of Gene Therapy

Immune function in X-linked retinoschisis subjects in an AAV8-RS1 phase I/IIa gene therapy trial.

The Journal of biological chemistry

Engineered FnCas12a with enhanced activity through directional evolution in human cells.

Molecular genetics & genomic medicine

Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.

Experimental and therapeutic medicine

A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis.

Molecular therapy : the journal of the American Society of Gene Therapy

Current Clinical Applications of In Vivo Gene Therapy with AAVs.

Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis.

American journal of ophthalmology case reports

Retinal detachment repair with perfluoro-N-octane endotamponade in an infant with juvenile X-linked retinoschisis.

Experimental eye research

Carbonic anhydrase inhibition in X-linked retinoschisis: An eye on the photoreceptors.

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.

Journal of vitreoretinal diseases

Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients.

Genetic Rescue of X-Linked Retinoschisis Mouse (Rs1-/y) Retina Induces Quiescence of the Retinal Microglial Inflammatory State Following AAV8-RS1 Gene Transfer and Identifies Gene Networks Underlying Retinal Recovery.

Human gene therapy

Case reports in ophthalmology

Effectiveness of Ripasudil, a Rho-Associated Coiled/Coil-Containing Protein Kinase Inhibitor, in Improving Retinoschisis and Cystic-Like Foveal Cavities in Eyes with X-Linked Retinoschisis.

Surgical management of a large retinal cyst in X-linked retinoschisis with internal drainage: Report of an unusual case.

Multimodal imaging of bilateral macular hole in X-linked retinoschisis.

BMJ case reports

A Female Case of X-Linked Retinoschisis with Macular Hole Bilaterally.

Middle East African journal of ophthalmology

Electronegative Electroretinograms in the United Arab Emirates.

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.

Turkish journal of ophthalmology

X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity.

Retinoschisis associated with Kearns-Sayre syndrome.

A case of undiagnosed X-linked retinoschisis presenting as unilateral macular demarcation line.

X-Linked Retinoschisis without Macular Retinoschisis: A New RS1 Mutation.

Dramatic response to topical dorzolamide in X-linked retinoschisis.

Full-Field Electroretinography, Pupillometry, and Luminance Thresholds in X-Linked Retinoschisis.

Outcome measures in juvenile X-linked retinoschisis: A systematic review.

Eye (London, England)

Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up.

Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis.

Molecular vision

The New England journal of medicine

Retinal Detachment in X-Linked Retinoschisis.

Journal of pediatric ophthalmology and strabismus

CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes.

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

Ophthalmology and therapy

Adult Presentation of X-Linked Retinoschisis: Patient and Physician Perspectives.

Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene.

Peripheral retinal neovascularization secondary to highly myopic superficial Retinoschisis: a case report.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Effect of light and diurnal variation on macular thickness in X-linked retinoschisis: a case series.

Ver todos os 345 no EuropePMC

Próxima:Associações

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Retinosquise ligada ao X.

É de uma associação que acompanha esta doença? Fale com a gente →

Próxima:Comunidades

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Retinosquise ligada ao X

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Próxima:Tire suas dúvidas

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Próxima:Doenças relacionadas

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Retinite pigmentosa

14 em comum

ORPHA:791

Distrofia dos cones e bastonetes

10 em comum

ORPHA:1872

Distrofia dos cones progressiva

8 em comum

ORPHA:1871

Doença músculo-olho-cérebro

Amaurose congênita de Leber

ORPHA:588

Cegueira noturna estacionária congênita

ORPHA:65

ORPHA:215

Síndrome Walker-Warburg

Retiniana tipo Bothnia, distrofia

ORPHA:899

Distrofia fúndica de Sorsby

ORPHA:85128

Microftalmia isolada-anoftalmia-coloboma

ORPHA:59181

ORPHA:2542

Ciliopatia retiniana

ORPHA:156165

Uveíte