A groundbreaking study has uncovered genetic factors that explain why some children benefit more from orthokeratology lenses, a common treatment for slowing myopia progression. Published in Eye and Vision on March 17, 2025, the research highlights key genes linked to retinal function, offering new avenues for personalized eye care in young patients.
The study, conducted by researchers from Wenzhou Medical University and PSI Genomics, analyzed genetic and clinical data from 545 children aged 8 to 12 who used orthokeratology lenses for one year. These lenses, worn overnight to reshape the cornea, are effective in controlling axial eye growth, a major contributor to myopia. However, treatment outcomes vary widely among children, and traditional factors like age or initial myopia severity provide limited explanations.
By comparing genetic profiles of children with strong and weak responses to the treatment, scientists identified nonsynonymous mutations in retinal-related genes as a key differentiator. Notably, children who responded well carried more mutations in LCA5, a gene critical for photoreceptor maintenance, while poor responders often had variants in RIMS2, which affects rod cell function. Additional variants in SLC7A14 and CLUAP1 were also linked to axial growth rates, reinforcing the retina’s role in treatment efficacy.
Dr. Xinjie Mao, a co-author of the study, emphasized the implications: “Our findings suggest retinal genes significantly influence orthokeratology outcomes. Genetic screening could one day help tailor myopia treatments to individual patients, optimizing their success.”
This research marks a step toward precision medicine in pediatric eye care, where genetic insights may guide lens selection and combination therapies. While further validation is needed, the study lays the groundwork for reducing trial-and-error in myopia management and improving outcomes for children worldwide.
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