Myopia
Conditions
Keywords
Myopia, genetic, intervention
Brief summary
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.
Interventions
GENETICOral 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.
Sponsors
Beijing New Vision Eye Hospital
High Myopia Control Alliance (HIMALAYA)
Beijing Visionly Plus Eye Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to 18 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Polygenic Risk Score (PRS) for Myopia Progression | 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). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Genotype-Guided Decision Tree for Myopia Control Interventions | 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 |
Countries
China
Contacts
Primary ContactLin Yang, M.D.
Outcome results
None listed