Based on the author’s literature review and on the manuscript by Christensen et al,[3] 18 mutations of the TIMP-3 gene have been implicated in the manifestation of SFD.[3,6,14–29] In the United Kingdom, most patients with SFD carry the Ser204Cys mutation in exon 5 of the TIMP-3 gene.[5]. This evidence concerns the gene TIMP3 and Sorsby fundus dystrophy.