Genetic study shows why some children respond better to myopia lenses

Genetic study shows why some children respond better to myopia lenses

Myopia, or nearsightedness, has reached epidemic levels worldwide, particularly in East and Southeast Asia. Orthokeratology, which involves specially designed contact lenses to reshape the cornea overnight, has been shown to be effective in slowing axial eye growth - a key factor in the progression of myopia. But not all children benefit equally. Traditional predictors such as age or initial degree of myopia provide limited insight into treatment success. Emerging evidence suggests that the retina plays a central role in regulating eye development. Based on these challenges, researchers have turned to genetics to better understand individual variability in orthokeratology results.

In a study (doi: 10.1186/s40662-025-00426-4) published on March 17, 2025 in, inEye and visionA team from the National Clinical Research Center for Eye Diseases at Wenzhou Medical University, working with PSI Genomics, analyzed clinical and genetic data from 545 children aged 8 to 12 who wore orthokeratology lenses for a year. Using whole-genome sequencing and targeted analysis of genes listed in the RetNET database, the researchers examined how genetic differences in retinal function may influence the lenses' ability to control axial elongation in myopic eyes.

Researchers first confirmed that certain clinical characteristics – such as older age, higher spherical equivalent (SE) and longer baseline axial length (AL) – were associated with better treatment outcomes. They then zoomed in on the genetic profiles of 60 children with very good or very poor treatment responses. Those in the well-controlled group had significantly more nonsynonymous mutations in genes related to retinal structure and signaling. Two genes stood out:Rims2which was more common in poor responders and is known to affect contrast sensitivity in rod cells; AndLCA5enriched in good responders and associated with photoreceptor maintenance. At the level of the individual nucleotide variants inSLC7A14(RS36006402) andCluap1(RS2285814) were found to significantly influence axial growth and highlight the sensory role of the retina in treatment response. This study marks the first time that genome-wide data has been used to explain differential effectiveness in orthokeratology and provide a basis for future personalized treatment strategies.

Our results suggest that genes affecting retinal development and photoreceptor function play a critical role in children's response to orthokeratology. This opens the door to tailored myopia control strategies, particularly for younger patients who exhibit rapid eye growth. In the future, we may be able to sort out genetic markers that predict treatment success before the lens even begins. “

Dr. Xinjie Mao, staff author of the study

He also noted that larger studies are needed to validate these promising leads.

This research signals a potential turning point in pediatric eye care—one that integrates genetics into clinical decision-making. By identifying genetic variants that predict poor or favorable responses, eye care providers may soon offer more individualized treatment plans, avoiding the inefficiencies of trial-and-error approaches. The genetic findings ofRims2PresentLCA5and related genes could also inform the next generation of lens designs or combination therapies such as low-dose atropine consumption. While further study is essential, this work provides a strong foundation for precision ophthalmology – where both a child's clinical profile and genetic blueprint guide the most effective path to slowing myopia.

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