X-linked retinoschisis
CA Ku, LW Wei, PA Sieving - Cold Spring …, 2023 - perspectivesinmedicine.cshlp.org
X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy causing visual
impairment in males starting at a young age with an estimated prevalence of 1: 5000 to 1 …
impairment in males starting at a young age with an estimated prevalence of 1: 5000 to 1 …
Advances in understanding the molecular structure of retinoschisin while questions remain of biological function
JB Heymann, C Vijayasarathy, RN Fariss… - Progress in Retinal and …, 2023 - Elsevier
Retinoschisin (RS1) is a secreted protein that is essential for maintaining integrity of the
retina. Numerous mutations in RS1 cause X-linked retinoschisis (XLRS), a progressive …
retina. Numerous mutations in RS1 cause X-linked retinoschisis (XLRS), a progressive …
[HTML][HTML] A Comparative Analysis of Models for AAV-Mediated Gene Therapy for Inherited Retinal Diseases
A Alsalloum, E Gornostal, N Mingaleva, R Pavlov… - Cells, 2024 - mdpi.com
Inherited retinal diseases (IRDs) represent a diverse group of genetic disorders leading to
progressive degeneration of the retina due to mutations in over 280 genes. This review …
progressive degeneration of the retina due to mutations in over 280 genes. This review …
[HTML][HTML] Depletion of miR-96 delays, but does not arrest, photoreceptor development in mice
L Xiang, J Zhang, FQ Rao, QL Yang… - … & Visual Science, 2022 - jov.arvojournals.org
Purpose: Abundant retinal microRNA-183 cluster (miR-183C) has been reported to be a key
player in photoreceptor development and functionality in mice. However, whether there is a …
player in photoreceptor development and functionality in mice. However, whether there is a …
Phenotype heterogeneity and the association between visual acuity and outer retinal structure in a cohort of Chinese X-linked juvenile retinoschisis patients
Q Guo, Y Li, J Li, Y You, C Liu, K Chen, S Li… - Frontiers in …, 2022 - frontiersin.org
Purpose: X-linked juvenile retinoschisis (XLRS), caused by mutations in the RS 1 gene, is
an X-linked recessive inherited disease that typically involves both eyes in the first 2 …
an X-linked recessive inherited disease that typically involves both eyes in the first 2 …
[HTML][HTML] Targeted expression of retinoschisin by retinal bipolar cells in XLRS promotes resolution of retinoschisis cysts sans RS1 from photoreceptors
C Vijayasarathy, Y Zeng, D Marangoni… - … & visual science, 2022 - jov.arvojournals.org
Purpose: Loss of retinoschisin (RS1) function underlies X-linked retinoschisis (XLRS)
pathology. In the retina, both photoreceptor inner segments and bipolar cells express RS1 …
pathology. In the retina, both photoreceptor inner segments and bipolar cells express RS1 …
Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy
C Duan, C Ding, X Sun, S Mao, Y Liang, X Liu… - Stem Cell Research & …, 2024 - Springer
Background X-linked juvenile retinoschisis (XLRS) is an inherited disease caused by RS1
gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1 …
gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1 …
Current management of inherited retinal degeneration patients in Europe: results of a 2-year follow-up multinational survey by the European vision institute clinical …
B Lorenz, J Tavares, LI van den Born… - Ophthalmic …, 2023 - karger.com
Introduction: An increasing number of gene-specific therapies are being developed for
inherited retinal degenerations (IRDs). Identification of well-characterized patients is an …
inherited retinal degenerations (IRDs). Identification of well-characterized patients is an …
Identifying Multiomic Signatures of X‐Linked Retinoschisis‐Derived Retinal Organoids and Mice Harboring Patient‐Specific Mutation Using Spatiotemporal Single …
Y Chien, YR Wu, CY Chen, YP Yang… - Advanced …, 2025 - Wiley Online Library
X‐linked retinoschisis (XLRS) is an inherited retinal disorder with severe retinoschisis and
visual impairments. Multiomics approaches integrate single‐cell RNA‐sequencing (scRNA …
visual impairments. Multiomics approaches integrate single‐cell RNA‐sequencing (scRNA …
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
I van der Veen, A Heredero Berzal, C Koster… - International journal of …, 2024 - mdpi.com
X-linked juvenile retinoschisis (XLRS) is an early-onset progressive inherited retinopathy
affecting males. It is characterized by abnormalities in the macula, with formation of cystoid …
affecting males. It is characterized by abnormalities in the macula, with formation of cystoid …