One such disease is Malattia Leventinese (ML), a rare macular dystrophy caused by an autosomal dominant Arg345Trp (R345W) mutation in the fibulin-3 (F3) protein, wherein patients develop AMD-like symptoms including drusen formation as early as 20 years of age18,19. The gene discussed is EFEMP1; the disease is age-related macular degeneration.