Associated Papers
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 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
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
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Retinal Function in X-Linked Juvenile Retinoschisis.
Ambrosio L et al.
Investigative Ophthalmology & Visual Science, 2019
Efficacy of topical brinzolamide in children with retinal dystrophies.
Scruggs BA et al.
Ophthalmic Genetics, 2019
Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.
Heymann JB et al.
The Journal of Cell Biology, 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
Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis.
Abalem MF et al.
Ophthalmic Genetics, 2018
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
Sudha D et al.
Plos One, 2018
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
Walia S et al.
American Journal of Ophthalmology, 2009
A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.
Koh HJ et al.
Korean Journal of Ophthalmology : Kjo, 2006
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
Eksandh L et al.
Ophthalmic Genetics, 2005
Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.
Fraternali F et al.
Febs Letters, 2003
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
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
Hiriyanna KT et al.
Human Mutation, 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
Positional cloning of the gene associated with X-linked juvenile retinoschisis.
Sauer CG et al.
Nature Genetics, 1997