Eight-Year Follow-Up of Phenotypic Progression in a Chinese XLRP Pedigree

Huihui Sun published a dataset on figshare in 2026 detailing an eight-year clinical follow-up of a Chinese X-linked retinitis pigmentosa (XLRP) pedigree. The data covers 23 individuals, including six affected males and five female carriers, and includes molecular analyses and ophthalmic evaluations. It documents a novel RP2 gene mutation and tracks phenotypic progression over time.

Use Cases

• Model disease progression based on longitudinal visual acuity and electroretinography (ERG) data
• Analyze genotype-phenotype correlations based on the identified RP2 gene mutation
• Study phenotypic variability and carrier manifestations in X-linked disorders
• Investigate the relationship between myopia progression and retinal structure changes in pediatric patients

Strengths

• Includes longitudinal data from an eight-year follow-up period
• Covers a pedigree of 23 individuals with detailed clinical and molecular data
• Documents a novel c.392G>A (p.C131Y) mutation of the RP2 gene

Limitations

• Column-level documentation is absent; field semantics must be inferred after download
• Row count is unknown, which may limit suitability assessment
• Data is from a single pedigree, which may limit generalizability

Provenance

Source

Huihui Sun

Collection Method

Clinical and molecular data collected from a Chinese pedigree; all individuals underwent molecular analyses and comprehensive ophthalmic evaluations.

Time Range

Eight-year follow-up period

Freshness

Last updated 2026-05-24 22:01:26

Geography

China