[HTML][HTML] X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms
X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular
degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal …
degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal …
Gene therapy in inherited retinal diseases: an update on current state of the art
A Amato, A Arrigo, E Aragona, MP Manitto… - Frontiers in …, 2021 - frontiersin.org
Background: Gene therapy cannot be yet considered a far perspective, but a tangible
therapeutic option in the field of retinal diseases. Although still confined in experimental …
therapeutic option in the field of retinal diseases. Although still confined in experimental …
Retinal AAV8-RS1 gene therapy for X-linked retinoschisis: initial findings from a phase I/IIa trial by intravitreal delivery
This study evaluated the safety and tolerability of ocular RS1 adeno-associated virus (AAV8-
RS1) gene augmentation therapy to the retina of participants with X-linked retinoschisis …
RS1) gene augmentation therapy to the retina of participants with X-linked retinoschisis …
The potential of CRISPR/Cas9 gene editing as a treatment strategy for inherited diseases
Clustered regularly interspaced short palindromic repeats (CRISPR) is a promising
innovative technology for genomic editing that offers scientists the chance to edit DNA …
innovative technology for genomic editing that offers scientists the chance to edit DNA …
X-linked retinoschisis: an update
X-linked retinoschisis is the leading cause of macular degeneration in males and leads to
splitting within the inner retinal layers leading to visual deterioration. Many missense and …
splitting within the inner retinal layers leading to visual deterioration. Many missense and …
[HTML][HTML] Carboxylated nanodiamond-mediated CRISPR-Cas9 delivery of human retinoschisis mutation into human iPSCs and mouse retina
Nanodiamonds (NDs) are considered to be relatively safe carbon nanomaterials used for
the transmission of DNA, proteins and drugs. The feasibility of utilizing the NDs to deliver …
the transmission of DNA, proteins and drugs. The feasibility of utilizing the NDs to deliver …
Advances in understanding the molecular structure of retinoschisin while questions remain of biological function
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 …
Use of dorzolamide for patients with X-linked retinoschisis
MA Apushkin, GA Fishman - Retina, 2006 - journals.lww.com
Purpose: To determine the value of a topical carbonic anhydrase inhibitor for the treatment
of foveal lesions in patients with X-linked retinoschisis (XLRS). Methods: Eight patients with …
of foveal lesions in patients with X-linked retinoschisis (XLRS). Methods: Eight patients with …
Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its …
LL Molday, WWH Wu, RS Molday - Journal of Biological Chemistry, 2007 - ASBMB
Retinoschisin or RS1 is a discoidin domain-containing protein encoded by the gene
responsible for X-linked retinoschisis (XLRS), an early onset macular degeneration …
responsible for X-linked retinoschisis (XLRS), an early onset macular degeneration …
Of men and mice: human X-linked retinoschisis and fidelity in mouse modeling
X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a
prominent macular component, that affects males and generally spares heterozygous …
prominent macular component, that affects males and generally spares heterozygous …