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

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

Research output: Contribution to journalReview article

36 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1569-1571
Number of pages3
JournalArchives of ophthalmology
Issue number12
StatePublished - Jan 1 1997


ASJC Scopus subject areas

  • Ophthalmology

Cite this