In relation to human visual diseases, an autosomal dominant gain-of-function mutation in the EFEMP1 gene (c.1033C>T, p.Arg345Trp) is known to be associated with Malattia Leventinese and Doyne honeycomb retinal dystrophy (Stone et al., 1999), leading to accumulation of drusen (yellow-white deposits) beneath the basal retinal pigment epithelium (RPE), a pathologic sign that overlaps with age-related macular degeneration (AMD) (Marmorstein et al., 2002). The gene discussed is EFEMP1; the disease is age-related macular degeneration.