C19ORF44-Associated Retinal Degeneration Case Report Demonstrating Phenotypic Divergence

A 65-year-old Chinese female patient with C19ORF44-associated retinal degeneration exhibited a peripheral-predominant retinitis pigmentosa phenotype, distinct from a previously reported Stargardt-like macular dystrophy linked to the same genotype. This case report, authored by figshare admin karger and published on figshare under CC-BY-4.0, highlights substantial genotype–phenotype variability in this newly described inherited retinal disease. The dataset is a 770.7 KB PDF file last updated on May 15, 2026.

Use Cases

• Studying phenotypic variability in inherited retinal diseases based on the described case of C19ORF44-associated degeneration.
• Investigating genotype-phenotype correlations based on the report of identical biallelic loss-of-function variants leading to different clinical presentations.
• Analyzing multimodal retinal imaging findings based on the description of peripheral-predominant retinitis pigmentosa with macular sparing.
• Benchmarking clinical presentations of C19ORF44 mutations based on the detailed case description of nyctalopia and progressive visual field loss.

Strengths

• Dataset is published under a permissive CC-BY-4.0 license, allowing for broad reuse.
• The case report provides a detailed, peer-reviewed clinical description of a rare genetic condition.
• The report includes specific genetic findings: compound heterozygous stop-gain and frameshift deletion variants in C19ORF44.

Limitations

• The dataset is a single case report (770.7 KB), representing a very limited sample size for analysis.
• Column-level documentation is absent; field semantics must be inferred from the PDF text after download.
• Data may reflect geographic or selection bias inherent to a single case report from a specific patient population.

Provenance

Source

figshare

Collection Method

Clinical case report and genetic testing.

Freshness

Last updated 2026-05-15 05:55:09; freshness should be verified.

Geography

Patient is described as a Chinese female; specific location not detailed.