Abstract
1. Introduction Severe refractive errors in children, such as high myopia and high hyperopia,
pose significant ocular health risks, potentially leading to complications like glaucoma, retinal
detachment, and permanent vision loss. This study aims to investigate genetic factors
contributing to severe refractive errors in Thai children to improve diagnostic and treatment
approaches.
2. Objectives
2.1 Analyze the frequency of genetic variants associated with severe refractive errors.
2.2 Examine the correlation between genetic and environmental factors affecting refractive
errors.
2.3 Develop knowledge to enhance diagnostic and treatment strategies.
3. Research Methodology This molecular study utilized Whole Genome Sequencing (WGS) and
Targeted Gene Panel Analysis in 98 children from 96 families diagnosed with severe refractive
errors. Clinical and genetic data were collected from the Queen Sirikit National Institute of Child
Health.
4. Key Findings
4.1 Mutations in genes such as COL2A1, COL11A1 were commonly identified in high myopia.
4.2 PRSS56 and MFRP mutations were linked to high hyperopia.
5. Policy Recommendations
Implement genetic screening for children with severe refractive errors to enable early
diagnosis. Promote further research into the genetic mechanisms underlying refractive errors to
advance personalized treatments. Integrate genetic insights into Thailand’s public health system
for early detection and prevention of vision impairments in the future.
