Associated Papers
Progression in X-Linked Retinoschisis: A Longitudinal Study Defining Quantitative Biomarkers and Their Implications for Gene Therapy.
Wei X et al.
American Journal of Ophthalmology, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Abstracts of the 62nd annual symposium of the international society for clinical electrophysiology of vision (ISCEV 2025), Utrecht, the Netherlands.
Unknown Author
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
A Novel AAV Capsid-Mediated RS1 Gene Therapy Restored Retinal Function to Wild-Type Levels in Rs1R213W Mouse Model.
Wei X et al.
Investigative Ophthalmology & Visual Science, 2025
The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.
Suvannaboon R et al.
Scientific Reports, 2025
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Chowdhury S et al.
Indian Journal of Ophthalmology, 2024
Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.
Wei X et al.
Investigative Ophthalmology & Visual Science, 2024
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.
Liu Z et al.
Ophthalmic Genetics, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P et al.
Ophthalmic Genetics, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
Kousal B et al.
Genes, 2021
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.
Huang L et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis.
Chen C et al.
Molecular Vision, 2020
A case of X-linked retinoschisis with atypical fundus appearance.
Nasser F et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2019
A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis.
Lee ES et al.
Annals of Laboratory Medicine, 2019
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
Hu QR et al.
Scientific Reports, 2017
A novel gene mutation in a family with X-linked retinoschisis.
Lai YH et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2015
Rapid resolution of retinoschisis with acetazolamide.
Zhang L et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2015
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
Sergeev YV et al.
Human Molecular Genetics, 2013
A phenotype-genotype correlation study of X-linked retinoschisis.
Vincent A et al.
Ophthalmology, 2013
Wide-field spectral-domain optical coherence tomography in patients and carriers of X-linked retinoschisis.
Gregori NZ et al.
Ophthalmology, 2013
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Molday RS et al.
Progress in Retinal and Eye Research, 2012
Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis.
Hou Q et al.
Intractable & Rare Diseases Research, 2012
Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.
Xu F et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2011
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.
Vijayasarathy C et al.
Human Mutation, 2010
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.
Xu J et al.
Molecular Vision, 2010
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis.
Atchaneeyasakul LO et al.
Japanese Journal of Ophthalmology, 2010
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Investigative Ophthalmology & Visual Science, 2009
Molecular genetic characteristics of X-linked retinoschisis in Koreans.
Kim SY et al.
Molecular Vision, 2009
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.
Gerth C et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2008
Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.
Riveiro-Alvarez R et al.
Human Genetics, 2008
Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
Suganthalakshmi B et al.
Molecular Vision, 2007
Novel phenotypic and genotypic findings in X-linked retinoschisis.
Tsang SH et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2007
Thirteen-year follow up of isolated foveal retinoschisis in a 24-year-old woman.
Chen FK et al.
Clinical & Experimental Ophthalmology, 2006
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Human Genetics, 2005