MERTK-Associated Retinal Dystrophy: Clinical Course and Imaging for 25 Patients

25 molecularly-confirmed patients with MERTK-associated retinal dystrophy are described in this clinical dataset. Thales A. C. de Guimarães compiled clinical data and retinal imaging from an in-house database, with the dataset last updated in May 2026. It includes measurements such as age of onset, visual acuity, and structural retinal parameters.

Use Cases

• Modeling disease progression rates based on ellipsoid zone width and outer nuclear layer thickness loss.
• Correlating genetic variants with clinical severity based on the 30 MERTK variants identified.
• Identifying biomarkers for disease staging using parameters like area of definitely decreased autofluorescence.
• Analyzing the relationship between age and functional decline based on best-corrected visual acuity and legal blindness age data.

Strengths

• Includes data from 25 molecularly-confirmed patients, providing a specific cohort.
• Contains detailed clinical measurements such as mean age of symptom onset (9.4 years) and baseline visual acuity.
• Reports 30 MERTK variants, with 6 being novel, offering genetic detail.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect bias inherent to a single in-house database.

Provenance

Source

figshare

Collection Method

Clinical data and retinal imaging extracted from an in-house database.

Time Range

The study reports a mean baseline age of 22.6 years for patients, with symptom onset before 16 years old.

Freshness

Last updated 2026-05-04 04:40:02; freshness should be verified.

Geography

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