Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Järvinen MA et al.
Acta Ophthalmologica, 2025
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.
Kirkby J et al.
Genes, 2023
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P et al.
Ophthalmic Genetics, 2023
Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis.
Wey S et al.
Frontiers in Medicine, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.
Huang L et al.
Molecular Genetics & Genomic Medicine, 2020
Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease.
Christodoulou P et al.
Medical Hypothesis, Discovery & Innovation Ophthalmology Journal, 2019
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
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.
Duncan JL et al.
Investigative Ophthalmology & Visual Science, 2011
X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype.
Khandhadia S et al.
Eye (london, England), 2011
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Investigative Ophthalmology & Visual Science, 2009
Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.
Riveiro-Alvarez R et al.
Human Genetics, 2008
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
Lesch B et al.
Molecular Vision, 2008
Novel phenotypic and genotypic findings in X-linked retinoschisis.
Tsang SH et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2007
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 retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
Pimenides D et al.
Journal of Medical Genetics, 2005
Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis.
Khan NW et al.
Vision Research, 2001
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
Gehrig A et al.
Clinical Genetics, 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