Case Report on Early-Onset Retinal Dystrophy in Alpha-Mannosidosis

A figshare-hosted case report describing a 17-year-old female patient with genetically confirmed alpha-mannosidosis and associated retinal dystrophy. The 615.2 KB PDF document, authored by figshare admin karger and last updated in April 2026, details ophthalmic evaluations including OCT and fundus imaging. The report underscores the importance of routine ophthalmologic surveillance for early detection in this rare lysosomal storage disorder.

Use Cases

• Reviewing clinical presentation patterns for early-onset retinal dystrophy based on the detailed case description.
• Supporting literature reviews on ophthalmic manifestations of alpha-mannosidosis based on the documented findings.
• Informing clinical surveillance protocols based on the report's conclusions regarding OCT, ERG, and fundus examinations.

Strengths

• Document is licensed under CC-BY-4.0, allowing for broad reuse.
• Report focuses on a specific, rare clinical presentation of a 17-year-old patient, providing detailed case data.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single case report PDF (615.2 KB), representing a very limited scope.

Provenance

Source

figshare

Collection Method

Clinical case report.

Time Range

Case report date unspecified; document last updated April 2026.

Freshness

Last updated 2026-04-20 05:55:29; freshness should be verified.

Geography

Geographic origin of the case is unspecified.