Mutations in LRP2 are associated with Donnai-Barrow syndrome, whose symptoms include buphthalmic eye enlargement and myopia, as well as orbital hypertelorism, diaphragmatic hernia, agenesis of the corpus callosum, facial deformities, hearing loss, and intellectual disabilities (Donnai and Barrow, 1993; Kantarci et al., 2007, 2008; Pober et al., 2009). The gene discussed is LRP2; the disease is myopia.