Clinical and Genetic Data for X-Linked Juvenile Retinoschisis in a Northern Chinese Cohort

16 male patients from 13 families with X-linked juvenile retinoschisis (XLRS) were studied between 2016 and 2024. The dataset includes genetic findings from whole-exome sequencing and detailed ophthalmic evaluations, identifying 12 RS1 variants, five of which were novel. This work was authored by Huihui Sun and shared under a CC-BY-4.0 license.

Use Cases

• Correlating specific RS1 gene mutations with clinical severity based on visual acuity and schisis patterns.
• Investigating genotype-phenotype relationships for novel variants like Q43* and R182C.
• Analyzing the penetrance of distinctive clinical features, such as clustered pigmentation.
• Comparing the prevalence of macular versus peripheral schisis in XLRS patients.
• Studying the spectrum of electroretinogram abnormalities associated with nonsense mutations.

Strengths

• Includes data from 16 patients across 13 unrelated families, providing a multi-family cohort.
• Identified 12 RS1 variants, including five novel mutations, expanding the known mutational spectrum.
• Contains detailed clinical measurements, including visual acuity (mean 0.58 ± 0.49 Log MAR) and optical coherence tomography findings for 31 eyes.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect geographic bias inherent to a single northern Chinese cohort.

Provenance

Source

Huihui Sun via figshare.

Collection Method

Clinical study involving whole-exome sequencing and direct sequencing of genomic DNA from patient blood samples.

Time Range

Patients enrolled between 2016 and 2024.

Freshness

Last updated 2026-05-13 22:01:17; freshness should be verified.

Geography

Northern Chinese cohort.