X Linked Retinoschisis - Neonatal Disorders

Relevant Publications

The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.

Issue Release: 2025

Intravitreal delivery of rAAV2-hSyn-hRS1 results in Retinal Ganglion Cell-specific gene expression and retinal improvement in the Rs1-KO mouse.

Issue Release: 2024

Choroidal neovascularisation secondary toX-linked retinoschisis.

Issue Release: 2024

Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of RS1 Secretion Profiles on Clinical Phenotypes.

Issue Release: 2024

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

Issue Release: 2024

Drug interactions of carbonic anhydrase inhibitors and activators.

Issue Release: 2024

Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene.

Issue Release: 2024

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.

Issue Release: 2024

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

Issue Release: 2024

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

Issue Release: 2024

Optical coherence tomography in children with inherited retinal disease.

Issue Release: 2024

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

Issue Release: 2024

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.

Issue Release: 2024

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

Issue Release: 2024

Waxing and waning course of X-linked bullous retinoschisis.

Issue Release: 2024

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

Issue Release: 2024

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

Issue Release: 2024

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

Issue Release: 2024

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.

Issue Release: 2024

Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of -Associated Retinopathy-A Case Report.

Issue Release: 2024

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