ArticleInvestigative ophthalmology & visual science2011
X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
Article in Investigative ophthalmology & visual science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Outcome measures in juvenile X-linked retinoschisis: A systematic review.Eye (London, England) · 2020Pooled it
- Bilateral non-hereditary foveomacular and peripheral retinoschisis in a young female with electrophysiological abnormalities.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis.Acta ophthalmologica · 2026Article
- Microglial phagocytosis of bipolar cells triggers inner retinal degeneration in Rs1-KO mice.Cell communication and signaling : CCS · 2026Article
- Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort.Frontiers in genetics · 2026Article
- Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Investigative ophthalmology & visual science · 2025Article
- Understanding the phenotype of genetically associated electronegative ERG retinopathies: comparing the full-field ERG b:a ratio.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Article
- A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.Acta ophthalmologica · 2025Article
- Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.Journal of clinical medicine · 2025Review
- Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- X-Linked Retinoschisis.Cold Spring Harbor perspectives in medicine · 2023Review
- XLRS Rat with Rs1Genes · 2022Article
- Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors.Investigative ophthalmology & visual science · 2022Article
- Rs1hGene therapy · 2022Article
- Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up.Frontiers in genetics · 2022Article
- The electrophysiological features of X-linked juvenile retinoschisis in a young male: a case report.The Journal of international medical research · 2022Article
- Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients.Frontiers in genetics · 2022Article
- Longitudinal Photoreceptor Phenotype Observation and Therapeutic Evaluation of a Carbonic Anhydrase Inhibitor in a X-Linked Retinoschisis Mouse Model.Frontiers in medicine · 2022Article
- A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis.Frontiers in genetics · 2022Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo assess the effect of age and RS1 mutation on the phenotype of X-linked retinoschisis (XLRS) subjects using the clinical electroretinogram (ERG) in a cross-sectional analysis.
methodsSixty-eight XLRS males 4.5 to 55 years of age underwent genotyping, and the retinoschisis (RS1) mutations were classified as less severe (27 subjects) or more severe (41 subjects) based on the putative impact on the protein. ERG parameters of retinal function were analyzed by putative mutation severity with age as a continuous variable.
resultsThe a-wave amplitude remained greater than the lower limit of normal (mean, -2 SD) for 72% of XLRS males and correlated with neither age nor mutation class. However, b-wave and b/a-ratio amplitudes were significantly lower in the more severe than in the less severe mutation groups and in older than in younger subjects. Subjects up to 10 years of age with more severe RS1 mutations had significantly greater b-wave amplitudes and faster a-wave trough implicit times than older subjects in this group.
conclusionsRS1 mutation putative severity and age both had significant effects on retinal function in XLRS only in the severe mutation group, as judged by ERG analysis of the b-wave amplitude and the b/a-ratio, whereas the a-wave amplitude remained normal in most. A new observation was that increasing age (limited to those aged 55 and younger) caused a significant delay in XLRS b-wave onset (i.e., a-wave implicit time), even for those who retained considerable b-wave amplitudes. The delayed b-wave onset suggested that dysfunction of the photoreceptor synapse or of bipolar cells increases with age of XLRS subjects.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.