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Instrumenting Carotid Sonography Biomarkers and Polygenic Risk Score As a Novel Screening Approach for Retinal

Kao-Jung Chang1,2,3,4, Ching-Yun Wang5, Hsin-Yu Wu1,6

  • 1Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.

Translational Vision Science & Technology
|April 14, 2025
PubMed
Summary

This study introduces a novel screening method combining carotid ultrasonography (CUS) and genetic polygenic risk scores (PRSRD) to identify individuals at risk for retinal detachment (RD). This approach offers a cost-effective, population-wide framework for early detection of RD predisposition.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Cardiovascular Imaging

Background:

  • Retinal detachment (RD) is a vision-threatening condition often diagnosed late.
  • Current screening methods for RD risk are limited, leaving many at-risk individuals undetected.
  • Early identification of RD predisposition is crucial for timely intervention.

Purpose of the Study:

  • To develop a comprehensive RD risk-informing system for a broader population.
  • To integrate carotid ultrasonography (CUS) biometrics, RD polygenic risk score (PRSRD), and clinical covariates (COVs) for RD risk assessment.
  • To establish a predictive model for identifying individuals susceptible to RD.

Main Methods:

  • Utilized backpropagation logistic regression to identify RD-associated CUS biomarkers.
  • Developed a PRSRD model using selected single-nucleotide polymorphisms (SNPs) with high retinal expression.
  • Assembled a three-component RD prediction model integrating CUS, PRSRD, and COVs via logistic cumulative analysis.

Main Results:

  • Hypertension (HTN) was significantly associated with RD (OR = 1.601).
  • Specific CUS parameters (ICA-Qmin, CCA-TAMAX) and three SNPs (IGFBPL1, CELF2, PAX6) were linked to increased RD risk.
  • The integrated three-component model achieved high prediction accuracy (AUC = 0.95 for HTN+ and 0.93 for HTN-).

Conclusions:

  • A novel screening method for RD at-risk patients was developed using CUS images and genetic PRSRD.
  • The combination of CUS and genome-wide association studies (GWAS) provides a cost-effective, population-wide screening framework.
  • This approach facilitates early identification of individuals at risk for retinal detachment.