ArticleMolecular genetics & genomic medicine2020
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families.BMC ophthalmology · 2026Article
- Intravitreal adenine base editing of RS1 improves vision in a preclinical mouse model of retinoschisis.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Retinal detachment associated with the splice site mutation c.53-1G>A in theSAGE open medical case reports · 2025Article
- Angle closure glaucoma in a patient with X-linked retinoschisis: a case report.International journal of ophthalmology · 2025Article
- Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials.Frontiers in medicine · 2023Article
- Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.Frontiers in medicine · 2023Article
- Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.Genes · 2022Article
- Vitreous hemorrhage in X-linked retinoschisis.American journal of ophthalmology case reports · 2022Article
- A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis.Frontiers in genetics · 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
- Whole-exome sequencing identifies anExperimental and therapeutic medicine · 2021Article
- Article
- Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked retinoschisis (XLRS) is one type of retinal dystrophy leading to the schisis of the neural retina and causing reduced visual acuity. The study aimed to investigate the clinical manifestations and retinoschisin 1 (RS1) mutations in Chinese patients with early onset XLRS.
methodsThirty-eight probands with early onset XLRS were recruited, comprehensive ophthalmic examination was performed. A targeted gene panel was used to test the RS1 mutations.
resultsAll probands had RS1 hemizygous mutations including 16 known and 14 novel mutations. The median onset age was 2 years old (range 0.1-6 years). Probands with onset age ≤1 years. had more complications (retinal detachment and vitreous hemorrhage, p < 0.001), more mutations outside the discoidin domain and more non-frameshift mutations than probands with onset age >1 years. Macular and peripheral involvement was present in 77.27% of probands, and inner and outer nuclear layer splitting were present in 53.57% of probands. Electroretinography showed an electronegative waveform. The relatively rare phenotypes of lamellar macular hole and macular hole were present in a unilateral eye in three probands.
conclusionIn conclusion, the early onset XLRS developed more severe complications which need close monitoring and clinical manifestations illustrated here may facilitate the early diagnosis of retinoschisis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.