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Sorsby's fundus dystrophy: Reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation

Felbor, U. ; Benkwitz, C. ; Klein, M. L. ; Greenberg, J. ; Gregory, C. Y. ; Weber, Bernhard H. F.



Abstract

Interfamilial phenotypic variations in Sorsby fundus dystrophy (SFD) have given rise to controversy as to whether SFD constitutes more than 1 nosologic entity. The recent identification of the tissue inhibitor of metalloproteinases-3 (TIMP3) as the gene causing SFD has made it possible to readdress the question of genetic and clinical heterogeneity. In this study, we have extended previous ...

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