EFEMP1 and Familial drusen: Doyne honeycomb retinal dystrophy (DHRD), also known as Malattia Leventinese, Online Mendelian Inheritance in Man (OMIM) 126600, is an autosomal dominant disorder caused by a single missense mutation, Arg345Trp (R345W), in the gene EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1) [1–4].The disease is typically characterized by early-onset drusenoid deposits involving the posterior pole and the peripapillary area, often with a radial distribution.