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Gene marker associated with myopia and general progression of refractive error
Ophthalmology. 2009;116(8):1469-1474.
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A gene variant identified in children was linked to the pathogenesis of myopia and rapid progression of refractive error, regardless of original refractive status, according to a study.
"These results underline the importance of eye growth genes in the development of common myopia," the study authors said.
Investigators set out to identify an association between variation in the cMET gene and the occurrence or progression of refractive error.
The cohort study included a discovery set comprising 579 children: 403 cases and 176 controls. A confirmatory set comprised 547 children: 338 cases and 209 controls. Children in the discovery set underwent genotyping for genetic markers within cMET. Markers found to be strongly associated with refractive error or more rapid progression of refractive error underwent genotyping in the confirmatory set.
Study data showed an association between the variant cMET + 110703 A allele and occurrence of myopia. Results also linked the variant to more rapid progression of refractive error in both groups of children, regardless of initial refraction.
The variant allele was overrepresented in children within the fastest quartile of refractive change compared with those in the slowest quartile, the authors said.
Khor et al state that the possible involvement of hepatocyte growth factor (HGF) and its receptor cMET in the cornea, and lens of the eye seem to lead to this pathogenesis. They further discuss that these findings may affect clinical practice by alerting eye care practitioners to screen these children earlier than others and following them closer due to the more rapid progression of their refractive error, in particular, myopia.
The take-home message from this article, from a clinical standpoint, again stresses the need for all children to be screened for vision problems at a very young age. The pediatrician or family physician must take the lead in this process. When there is a family history of refractive error, whether myopia, hyperopia and/or astigmatism, as well as a family history of strabismus and/or amblyopia, it is best to refer these children sooner rather than later. In many instances, age 3 is even late for those referrals and even more reason for the primary physician to be diligent in the vision screening process. It is unlikely that formal genetic testing would ever be necessary in the United States as has drawn the current interest of this study.
– Robert S. Gold, MD
OSN
Pediatrics/Strabismus Section Editor