Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort
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
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P et al.
Ophthalmic Genetics, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
Kousal B et al.
Genes, 2021
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
Sudha D et al.
Plos One, 2018
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.
Duncan JL et al.
Investigative Ophthalmology & Visual Science, 2011
X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype.
Khandhadia S et al.
Eye (london, England), 2011
Select a paper to view details