EFEMP1 and Macular dystrophy: For instance, mutations in TIMP3 are causative of the macular dystrophies Sorsby fundus dystrophy and in EFEMP1 of Doyne honeycomb retinal dystrophy and Malatia Leventiese, which are characterized by drusen accumulation underneath the RPE, an aspect that has been recapitulated in vitro using patient iPSC-derived RPE cells30.