Identifying Multiomic Signatures of X‐Linked Retinoschisis‐Derived Retinal Organoids and Mice Harboring Patient‐Specific Mutation Using Spatiotemporal Single‐Cell Transcriptomics
Sign Up to like & getrecommendations! Published in 2024 at "Advanced Science"
DOI: 10.1002/advs.202405818
Abstract: X‐linked retinoschisis (XLRS) is an inherited retinal disorder with severe retinoschisis and visual impairments. Multiomics approaches integrate single‐cell RNA‐sequencing (scRNA‐seq) and spatiotemporal transcriptomics (ST) offering potential for dissecting transcriptional networks and revealing cell‐cell interactions involved… read more here.
Keywords: mice; derived retinal; retinal organoids; cell ... See more keywords
Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis.
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmology"
DOI: 10.1016/j.ophtha.2018.03.057
Abstract: PURPOSE To analyze the retinal structure in patients with X-linked retinoschisis (XLRS) using spectral-domain OCT and to correlate the morphologic findings with visual acuity, electroretinographic results, and patient age. DESIGN Retrospective, observational study. PARTICIPANTS Data… read more here.
Keywords: acuity; patients linked; age; linked retinoschisis ... See more keywords
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2154809
Abstract: ABSTRACT Background X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to… read more here.
Keywords: xlrs; retinal detachment; linked retinoschisis; patient ... See more keywords
A novel deletion-insertion variant of RS1 in X-linked retinoschisis
Sign Up to like & getrecommendations! Published in 2025 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2025.2523473
Abstract: ABSTRACT Purpose Structural variants such as large deletions or insertions are rarely observed in the RS1 gene. Here, we report a 20-year-old male patient with X-linked retinoschisis (XLRS) carrying a novel deletion-insertion variant of RS1.… read more here.
Keywords: deletion; novel deletion; deletion insertion; linked retinoschisis ... See more keywords
MACULAR MICROVASCULATURE IN X-LINKED RETINOSCHISIS
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DOI: 10.1097/iae.0000000000003539
Abstract: Supplemental Digital Content is Available in the Text. This study demonstrates important vascular and structural changes in eyes of X-linked retinoschisis patients affecting their visual outcome, with structural deterioration of the photoreceptor layer, best reflecting… read more here.
Keywords: photoreceptor layer; photoreceptor; linked retinoschisis; foveal ... See more keywords
TOPICAL CARBONIC ANHYDRASE INHIBITORS IN THE LONG-TERM TREATMENT OF JUVENILE X-LINKED RETINOSCHISIS
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DOI: 10.1097/iae.0000000000003588
Abstract: This retrospective study of 18 eyes in 10 patients with X-linked retinoschisis treated with topical dorzolamide over a mean follow-up of 8.38 years demonstrated significant improvement in visual acuity and nonstatistically significant reduction in macular… read more here.
Keywords: topical carbonic; topical dorzolamide; linked retinoschisis; juvenile linked ... See more keywords
Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis.
Sign Up to like & getrecommendations! Published in 2025 at "Acta ophthalmologica"
DOI: 10.1111/aos.70036
Abstract: PURPOSE X-linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).… read more here.
Keywords: years iqr; xlrs; vitreoretinal complications; linked retinoschisis ... See more keywords
Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Ophthalmology"
DOI: 10.1177/1120672120916722
Abstract: Purpose: To describe the unusual presentation, diagnosis, and clinical course of an early-onset X-linked infantile retinoschisis Case report: A 6-month-old infant presented with strabismus and poor fixation. After the detection of bilateral intraretinal hemorrhage and… read more here.
Keywords: early onset; retinoschisis; linked retinoschisis; onset linked ... See more keywords
Immune landscape in children with X-linked retinoschisis
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DOI: 10.1186/s12865-025-00741-4
Abstract: X-linked retinoschisis is a retinovitreal disorder primarily affecting males, starting in childhood. Over time, patients experience deterioration of vision due to the lack of retinoschisin-1 function. In clinical trials performing intravitreal gene delivery in those… read more here.
Keywords: landscape children; immune landscape; children linked; linked retinoschisis ... See more keywords
Investigation of Correlations Between Optical Coherence Tomography Biomarkers and Visual Acuity in X-Linked Retinoschisis
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2021.734888
Abstract: Purpose To investigate the imaging biomarkers of spectral-domain optical coherence tomography (SD-OCT) and their correlations with age and best-corrected visual acuity (BCVA) in patients with X-linked retinoschisis (XLRS). Methods OCT images of 72 eyes of… read more here.
Keywords: retinoschisis; coherence tomography; visual acuity; linked retinoschisis ... See more keywords
Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
Sign Up to like & getrecommendations! Published in 2019 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_1407_18
Abstract: A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had… read more here.
Keywords: closure glaucoma; linked retinoschisis; angle closure;