A novel TIMP3 mutation associated with Sorsby fundus dystrophy

Sorsby fundus dystrophy (SFD), originally described by Sorsby and Mason in 1949, is a rare autosomal dominant retinal degeneration. To date, 8 mutations in the tissue inhibitor of metalloproteinases 3 (TIMP3) gene on chromosome 22q13 have been described in patients with SFD. Herein we describe clinical features in a family of Eastern European-Jewish ancestry with a novel TIMP3 mutation.