A NOVEL MUTATION AT THE N-TERMINAL DOMAIN OF THE TIMP3 GENE IN SORSBY FUNDUS DYSTROPHY

Abstract

All previously reported mutations in Sorsby fundus dystrophy occur at Exon 5 in the C-terminal domain. We report 2 patients with novel mutations in Exon 1 of the N-terminal domain. Although the mutation occurs at a different location on the TIMP3 gene, the clinical features are similar to other reported patients with Sorsby fundus dystrophy. This finding assists in understanding the pathogenesis of this disorder.