Associated Papers
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes.
Lee SJ et al.
Ophthalmology. Retina, 2025
Diurnal functional and anatomical changes in X-linked retinoschisis.
Mautone L et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
X-linked retinoschisis: OCT-angiography in two brothers from a four-generation family with a p.Arg197Cys pathogenic variant in the RS1 gene.
Carta A et al.
European Journal of Ophthalmology, 2023
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S et al.
The British Journal of Ophthalmology, 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
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
MACULAR MICROVASCULATURE IN X-LINKED RETINOSCHISIS: Optical Coherence Tomography and Optical Coherence Tomography Angiography Study.
Kwon HJ et al.
Retina (philadelphia, Pa.), 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Kondo H et al.
Human Genome Variation, 2019
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.
Cukras C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2018
Bullous X linked retinoschisis: clinical features and prognosis.
Hinds AM et al.
The British Journal of Ophthalmology, 2018
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
Hu QR et al.
Scientific Reports, 2017
Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family.
Galantuomo MS et al.
Clinical Ophthalmology (auckland, N.z.), 2016
X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.
Ulinska M et al.
Klinika Oczna, 2014
X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype.
Khandhadia S et al.
Eye (london, England), 2011
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 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
Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.
Riveiro-Alvarez R et al.
Human Genetics, 2008
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Human Genetics, 2005
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R et al.
Human Genetics, 2005
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R et al.
Human Genetics, 2005
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
Shastry BS et al.
Biochemical and Biophysical Research Communications, 1999
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
Unknown Author
Human Molecular Genetics, 1998
Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome.
Sato M et al.
Ophthalmic Research, 0