Associated Papers
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data
A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Järvinen MA et al.
Acta Ophthalmologica, 2025
Case Report: Carbonic anhydrase inhibitor brinzolamide dramatically improved the morphology and also function of a patient with RS1 mutation.
Ren Y et al.
Frontiers in Pharmacology, 2025
Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.
Wei X et al.
Investigative Ophthalmology & Visual Science, 2024
38324300 (PubMed )
Supplement: iovs-65-2-17_s001.pdf
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
Management of angle-closure glaucoma with X-linked retinoschisis: a case report.
Li Y et al.
Bmc Ophthalmology, 2023
Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis.
Chen C et al.
Molecular Vision, 2020
Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis.
Huang KC et al.
Stem Cell Reports, 2019
Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis.
Peng CH et al.
Stem Cell Research, 2018
Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.
Wang NK et al.
Molecular Vision, 2015
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
Li X et al.
Molecular Vision, 2007
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
Mashima Y et al.
Human Mutation, 1999
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