Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes.
Lee SJ et al.
Ophthalmology. Retina, 2025
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
35456481 (PubMed )
Supplement: genes-13-00675-s001.zip › genes-1649451-supplementary.xlsx › Supplementary_Table_S2
Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients.
Guo Q et al.
Frontiers in Genetics, 2022
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.
Kim DY et al.
Retina (philadelphia, Pa.), 2006
Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations.
Chan WM et al.
Clinical & Experimental Ophthalmology, 2004
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
Hiriyanna KT et al.
Human Mutation, 1999
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.
Kim DY et al.
Seminars in Ophthalmology, 0
Select a paper to view details