Point mutations in the C-terminal domain of TIMP3, that insert single cysteines into non-conserved sites (Tyr151Cys, Glu162Lys, Tyr174Cys, Tyr177Cys, Ser179Cys, Tyr182Cys, Gly189Cys, Gly190Cys, Tyr191Cys, Ser193Cys, Tyr195Cys, Tyr198Cys and Ser204Cys), are linked to Sorsby fundus Dystrophy (SFD), an inherited form of blindness37,38. This evidence concerns the gene TIMP3 and Sorsby fundus dystrophy.