Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are ... Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see (160700).
In a large 4-generation family in which 9 members had high-grade myopia, with an average spherical refractive error of -22.00D, Tran-Viet et al. (2013) performed exome sequencing and identified a heterozygous nonsense mutation in the SCO2 gene (Q53X; ... In a large 4-generation family in which 9 members had high-grade myopia, with an average spherical refractive error of -22.00D, Tran-Viet et al. (2013) performed exome sequencing and identified a heterozygous nonsense mutation in the SCO2 gene (Q53X; 604272.0001) that segregated with disease and was not found in 1,000 control samples. Sequencing of SCO2 in an additional 140 high-grade myopia patients revealed 3 heterozygous variants in 3 patients (e.g., 604272.0002 and 604272.0009). Noting that compound heterozygosity for SCO2 mutations has been shown to cause a COX-deficient form of fatal infantile cardioencephalomyopathy (604377), Tran-Viet et al. (2013) commented that neonatal death precludes investigation of an associated clinical ocular phenotype such as refractive error, and that further investigation of the phenotypic intersection of myopia and cardioencephalopathy was warranted.