EFEMP1 and Familial drusen: DHRD, also known as Malattia Leventinese (ML), is an example of a rare autosomal dominant monogenic disorder caused by a single mutation, namely the R345W missense mutation in the gene encoding the epidermal growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1), an extracellular glycoprotein also known as fibulin-3 (172).