FAM161A Retinopathy Case Study: Cone Dysfunction in a 20-Year-Old Male

Jinan Alhamad published a clinical case report on figshare in April 2026. The report describes the features of cone dysfunction in a single patient with a homozygous frameshifting variant in the FAM161A gene. It includes clinical observations, imaging, and electroretinography results over a 3-year follow-up period.

Use Cases

• Study the phenotypic presentation of FAM161A variants based on the detailed clinical description.
• Compare electroretinography patterns in isolated cone dysfunction based on the reported results.
• Investigate the stability of cone dysfunction over time based on the 3-year follow-up data.
• Aid in the differential diagnosis of cone dysfunction syndrome based on the clinical conclusions.

Strengths

• Includes longitudinal data from a 3-year follow-up period.
• Contains detailed clinical findings from multiple diagnostic methods (imaging, electroretinography, genetic sequencing).
• Released under a permissive CC-BY-4.0 license.

Limitations

• Dataset is a single case report (n=1), limiting statistical power.
• Row count and column-level documentation are unknown.
• The primary data file is a DOCX document, which may require parsing to extract structured information.

Provenance

Source

Jinan Alhamad

Collection Method

Clinical case study involving patient examination, imaging, electroretinography, and whole-exome sequencing.

Time Range

Covers a 3-year follow-up period for a single patient.

Freshness

Last updated 2026-04-21 02:39:24.