title: Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation.
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 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.
authors.affiliation: Institute of Human Genetics, University Eye Hospital, University of Würzburg, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Felbor
authors.forename: C
authors.initials: C
authors.lastname: Benkwitz
authors.forename: M L
authors.initials: ML
authors.lastname: Klein
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
authors.forename: C Y
authors.initials: CY
authors.lastname: Gregory
authors.forename: B H
authors.initials: BH
authors.lastname: Weber
mesh_terms: D000293:Adolescent; D000328:Adult; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D018703:Founder Effect; D005654:Fundus Oculi; D005819:Genetic Markers; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D019717:Tissue Inhibitor of Metalloproteinase-3 / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D019717:Tissue Inhibitor of Metalloproteinase-3; D004247:DNA