The End of Myopia

Several haplotypes of the cone opsin genes, OPN1LW and OPN1MW, cause exon 3-skipping during pre-messenger RNA splicing and are associated with high-myopia (nearsightedness). Cone photoreceptors expressing these haplotypes have substantially less photopigment than cones in the same retina expressing non-exon-skipping haplotypes. Thus, we hypothesized that abnormal contrast signals arising from adjacent cones with different amounts of photopigment stimulate axial elongation of the eye, causing myopia. If so, opsin gene haplotypes exhibiting milder exon-skipping might be associated with common juvenile-onset myopia, and it may be possible to use contrast-reducing spectacles to slow myopia progression. We present experimental evidence that opsin gene haplotypes are major risk factors for juvenile-onset myopia rivaling all other known polymorphisms combined. Moreover, contrast-reducing lenses significantly slowed axial elongation of eyes of myopic children, thereby slowing the progression of myopia. Combined, contrast-reducing spectacles and early intervention through genetic identification of myopia-susceptible children illuminate a pathway to end myopia.