TY - JOUR
T1 - Sorsby fundus dystrophy
T2 - Reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
AU - Felbor, Ute
AU - Benkwitz, Claudia
AU - Klein, Michael L.
AU - Greenberg, Jacquie
AU - Gregory, Cheryl Y.
AU - Weber, Bernhard H.F.
PY - 1997
Y1 - 1997
N2 - 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.
AB - 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.
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U2 - 10.1001/archopht.1997.01100160739011
DO - 10.1001/archopht.1997.01100160739011
M3 - Review article
C2 - 9400791
AN - SCOPUS:0031468856
SN - 0003-9950
VL - 115
SP - 1569
EP - 1571
JO - Archives of ophthalmology
JF - Archives of ophthalmology
IS - 12
ER -