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Reevaluation of Variable Expressivity in Patients Carrying a TIMP3 Founder Mutation

Ute Felbor, MD; Claudia Benkwitz, MD; Michael L. Klein, MD; Jacquie Greenberg, PhD; Cheryl Y. Gregory, PhD; Bernhard H. F. Weber, PhD

Arch Ophthalmol. 1997;115(12):1569-1571.

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.

Author Affiliations
From the Institute of Human Genetics (Drs Felbor, Benkwitz, and Weber) and University Eye Hospital (Dr Felbor), University of Würzburg, Würzburg, Germany; Department of Ophthalmology, Oregon Health Sciences University, Portland (Dr Klein); Department of Human Genetics, University of Cape Town, Cape Town, South Africa (Dr Greenberg); and Department of Molecular Genetics, Institute of Ophthalmology, London, England (Dr Gregory).

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