Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
U. Felbor, C. Benkwitz, M. L. Klein, J. Greenberg, C. Y. Gregory and B. H. Weber
Institute of Human Genetics, University Eye Hospital, University of Wurzburg, Germany.
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 findings on a Ser181Cys founder mutation
in SFD families from the British Isles and show that carriers of this
mutation residing in Canada, the United States, and South Africa likewise
are descendants of the British ancestor. In addition, we have reevaluated
the question of variable SFD phenotypes by analyzing the available clinical
data on carriers of the Ser181Cys mutation.
