Association of Genetic Variants With Myopia

June 11, 2025 updated by: Beijing Visionly Plus Eye Hospital

Genetic Variants and Their Association With Myopia Risk, Progression, and Optimal Interventions in Children

This study aims to identify genetic factors linked to myopia, including those that influence a person's risk of developing it and how quickly it progresses (like changes in eye length). It will also examine how different treatments-such as low-dose atropine drops, orthokeratology lenses, specialized glasses, and increased outdoor time-interact with these genes. Finally, the research will develop a genetic risk score to help tailor personalized myopia prevention and treatment plans.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • China
      • Beijing, China, 100020
        • Recruiting
        • Beijing New Vision Eye Hospital
        • Contact:
      • Beijing, China, 100020
        • Recruiting
        • Beijing Visionly Plus Eye Hospital
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Not limited to any specific population group

Description

Inclusion Criteria:

  • Age 6-18 years.
  • Any Spherical equivalent refraction (SER)
  • Parental consent for genetic testing.

Exclusion Criteria:

  • Suspected genetic syndromes (e.g., Stickler, Marfan).
  • Other eye diseases (e.g., glaucoma, cataracts, retinal abnormalities, strabismus).
  • Prior refractive surgery

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Genetic and myopia onset

Identify genetic variants (GWAS/WES) associated with:

  • Myopia onset risk (high-risk SNPs ).
  • Myopia progression rate (e.g., axial elongation/year).
Genetic: Oral swab DNA analyzed for myopia-related gene variants
Beyond detecting links between gene variants and myopia development, the testing analyzes how these variants influence treatment effectiveness. The aim is to enable early risk prediction and personalized treatment guidance for children through oral DNA testing.
Genetic and myopia intervention

Evaluate gene-intervention interactions for:

  • Low-dose atropine (0.01%, 0.05%).
  • Orthokeratology.
  • Defocus-incorporated spectacles.
  • Outdoor/sunlight exposure (≥2 hours/day).
Genetic: Oral swab DNA analyzed for myopia-related gene variants
Beyond detecting links between gene variants and myopia development, the testing analyzes how these variants influence treatment effectiveness. The aim is to enable early risk prediction and personalized treatment guidance for children through oral DNA testing.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Polygenic Risk Score (PRS) for Myopia Progression
Time Frame: Every 6 months for 3 years

  1. Measure the Myopia Progression Rate (Change in Diopters/year)

    • Measurement Tool: Autorefractor (Topcon KR-8900)
    • Method: Spherical equivalent refraction (SER) will be measured at baseline and every 6 months, with the annual rate of change (ΔD/year) calculated.
    • Unit: Diopters (D)

  2. Measure the Axial Length Growth Rate (mm/year)

    • Measurement Tool: Optical Biometer (Zeiss IOLMaster 700)
    • Method: Axial length (AL) will be measured at baseline and every 6 months, with the annual rate of change (Δmm/year) calcu

  3. Genetic Risk Assessment Model

    • Measurement Tool: Candidate genetic loci will be screened using whole-exome sequencing (WES)or genome-wide association study (GWAS).
    • A PRS model for myopia progression will be constructed by integrating refractive error (SER) and axial length changes using LASSO, DBSLMM or LDpred2 regression.
    • The correlation between PRS and myopia progression rate will be evaluated (R² or AUC curve).
Every 6 months for 3 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genotype-Guided Decision Tree for Myopia Control Interventions
Time Frame: Every 6 months for 3 years

  1. Data Collection

    • error (spherical equivalent, ΔD/year) - Measured via autorefractor (per Primary Outcome Measure)
    • Axial length (Δmm/year) - Measured via optical biometer (per Secondary Outcome Measure)
    • Genetic Data: Myopia-associated SNPs (derived from WES/GWAS)
    • Clinical Intervention Data: Type of myopia control intervention (e.g., 0.01% atropine, orthokeratology, defocus-incorporated spectacles, myopia-control soft contact lenses)

  2. Analytical Pipeline

    • Compute individual PRS by aggregating weighted risk alleles (SNP effect sizes from GWAS or WES)
    • Optimal Intervention Stratification
    • Apply logistic regression/decision tree analysis to:Identify PRS threshold(s) predictive of treatment response. Test hypotheses ( "Subjects with PRS >X exhibit superior efficacy with atropine vs. orthokeratology")

  3. Clinical Translation

    • Generate decision trees or nomograms to visualize:
    • PRS-guided intervention selection
    • Predicted treatment efficacy probabilities
Every 6 months for 3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Beijing Visionly Plus Eye Hospital

Collaborators

High Myopia Control Alliance (HIMALAYA)
Beijing New Vision Eye Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

July 1, 2025

Primary Completion (Estimated)

August 31, 2028

Study Completion (Estimated)

December 31, 2028

Study Registration Dates

First Submitted

April 22, 2025

First Submitted That Met QC Criteria

June 11, 2025

First Posted (Actual)

June 22, 2025

Study Record Updates

Last Update Posted (Actual)

June 22, 2025

Last Update Submitted That Met QC Criteria

June 11, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Precvision202501

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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