Case Report on Tractional Retinoschisis in X-linked Alport Syndrome

A 2026 case report from figshare details a rare ocular manifestation in a 60-year-old female patient with X-linked Alport syndrome. The report describes clinical observations including optical coherence tomography findings, electroretinogram results, and genetic analysis identifying a specific COL4A5 mutation. The supplementary material is a 2.7 MB document published under a CC-BY-4.0 license.

Use Cases

• Analyzing rare ocular phenotypes in genetic syndromes based on the detailed case presentation.
• Studying genotype-phenotype correlations in X-linked Alport syndrome based on the described COL4A5 mutation.
• Reviewing multimodal ophthalmic imaging findings (OCT, autofluorescence) for educational or diagnostic reference.
• Investigating underdiagnosis patterns in female carriers of X-linked genetic disorders based on the conclusion.

Strengths

• Includes specific genetic mutation data (COL4A5) for the patient and her son.
• Provides detailed multimodal clinical observations (OCT, electroretinogram, autofluorescence).
• Published under a permissive CC-BY-4.0 license for reuse.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare admin karger

Collection Method

Likely a clinical case report submitted for publication.

Time Range

Case report dated 2026.

Freshness

Last updated 2026-04 09:55:15; freshness should be verified.

Geography

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