A specific non-conservative mutation in the EFEMP1 gene causes an inherited autosomal dominant macular degeneration called Malattia Leventinese (ML) (otherwise known as Doyne honeycomb retinal dystrophy (DHRD)), characterised by the formation of drusen (pathological deposits of ECM) between the RPE and Bruch’s membrane in the eye [66]. Here, EFEMP1 is linked to Doyne honeycomb retinal dystrophy.