How genetic is school myopia?

Abstract

Myopia is of diverse aetiology. A small proportion of myopia is clearly familial, generally early in onset and of high level, with defined chromosomal localisations and in some cases, causal genetic mutations. However, in economically developed societies, most myopia appears during childhood, particularly during the school years. The chromosomal localisations characterised so far for high familial myopia do not seem to be relevant to school myopia. Family correlations in refractive error and axial length are consistent with a genetic contribution to variations in school myopia, but potentially confound shared genes and shared environments. High heritability values are obtained from twin studies, but rest on contestable assumptions, and require further critical analysis, particularly in view of the low heritability values obtained from parent-offspring correlations where there has been rapid environmental change between generations. Since heritability is a population-specific parameter, the values obtained on twins cannot be extrapolated to define the genetic contribution to variation in the general population. In addition, high heritability sets no limit to the potential for environmentally induced change. There is in fact strong evidence for rapid, environmentally induced change in the prevalence of myopia, associated with increased education and urbanisation. These environmental impacts have been found in all major branches of the human family, defined in modern molecular terms, with the exception of the Pacific Islanders, where the evidence is too limited to draw conclusions. The idea that populations of East Asian origin have an intrinsically higher prevalence of myopia is not supported by the very low prevalence reported for them in rural areas, and by the high prevalence of myopia reported for Indians in Singapore. A propensity to develop myopia in "myopigenic" environments thus appears to be a common human characteristic. Overall, while there may be a small genetic contribution to school myopia, detectable under conditions of low environmental variation, environmental change appears to be the major factor increasing the prevalence of myopia around the world. There is, moreover, little evidence to support the idea that individuals or populations differ in their susceptibility to environmental risk factors.