AOFVD Case Report: IMPG1 Variant in a Chinese Patient

Supplementary Material for: IMPG1 variant causing adult-onset foveomacular vitelliform dystrophy in Chinese: A case report. This dataset contains a detailed case report of a 59-year-old Chinese male patient with Adult-onset foveomacular vitelliform dystrophy (AOFVD), including clinical presentation, multimodal imaging, genetic testing results, and treatment outcomes. The report highlights the diagnostic challenge of AOFVD mimicking age-related macular degeneration and the identification of an IMPG1 mutation.

Use Cases

• Differential diagnosis analysis based on multimodal imaging findings (fundus, OCT, electrooculography).
• Genetic correlation studies linking IMPG1 mutations to adult-onset vitelliform dystrophy phenotypes.
• Clinical education on distinguishing AOFVD from age-related macular degeneration to avoid unnecessary treatments.
• Longitudinal tracking of disease progression based on the one-month follow-up visual acuity and lesion changes.

Strengths

• Provides a detailed, multimodal clinical case report including genetic testing results (IMPG1 mutation).
• Includes specific quantitative clinical measurements (visual acuity 20/50 and 20/40, decreased Arden ratio).
• Dataset is openly available under a CC-BY-4.0 license, facilitating reuse and sharing.

Limitations

• Dataset consists of a single case report, limiting statistical generalizability.
• Column names and data structure are unknown, hindering programmatic analysis.
• The file is a PDF (757,159 bytes), which is not a structured data format.

Provenance

Source

figshare admin karger

Collection Method

Clinical case study and report.

Time Range

Case report timeframe unspecified; includes a one-month follow-up.

Freshness

Last updated on 2026-03-24.

Geography

China (patient is Chinese).