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.
Shi et al. (2011) studied 6 patients from a 5-generation Han Chinese family segregating autosomal dominant severe high myopia. Disease onset was at 3 to 4 years of age, with all affected individuals developing high myopia by age ... Shi et al. (2011) studied 6 patients from a 5-generation Han Chinese family segregating autosomal dominant severe high myopia. Disease onset was at 3 to 4 years of age, with all affected individuals developing high myopia by age 7 years. Three elderly patients showed typical fundus features of high myopia, with thinning of the retinal pigment epithelium and the choriocapillaris that resulted in the so-called 'tigroid' or 'tessellated' appearance of the fundus.
In a 5-generation Han Chinese family segregating autosomal dominant high myopia, Shi et al. (2011) performed exome sequencing and segregation analysis and identified a missense mutation in the ZNF644 gene (S672G; 614159.0001). A lod score of 3.19 was ... In a 5-generation Han Chinese family segregating autosomal dominant high myopia, Shi et al. (2011) performed exome sequencing and segregation analysis and identified a missense mutation in the ZNF644 gene (S672G; 614159.0001). A lod score of 3.19 was obtained (theta = 0.0) for autosomal dominant inheritance with full penetrance and 0.0001 for the disease allele frequency. Analysis of ZNF644 in an additional 300 unrelated sporadic patients with high myopia revealed 5 heterozygous mutations in 11 patients, respectively (see, e.g., 614159.0002-614159.0003), that were not found in 600 ethnically matched controls .