We had previously found that HUVEC cells transfected with cDNA corresponding to full length TIMP3 and a highly truncated Sorsby’s fundus dystrophy mutated form of TIMP3, E139X, showed reduced VEGFR2 and Erk1/2 phosphorylation in response to VEGF, whereas the same cells transfected with the N-terminal domain showed no reduction in these responses (unpublished observation). The gene discussed is TIMP3; the disease is Sorsby's fundus dystrophy.