A novel TIMP–3 mutation in Sorsby's Fundus Dystrophy

Abstract

Abstract: : Purpose: To describe the clinical and molecular genetic characteristics of an Eastern European–Jewish family with early onset retinal degeneration resembling Sorsby’s Fundus Dystrophy. Methods: Family members underwent standard ophthalmological examination including visual acuity testing, dilated opthalmoscopy, fundus photography, and fluorescein and ICG angiography. All exons of the TIMP–3 gene were analyzed by direct sequencing in the available family members. Results: Onset of symptoms in the affected family members was in the third an fourth decade of life with the subsequent development of choroidal neovascularization and RPE atrophy. A single base pair change, 508A>T, in the C–terminal domain of the TIMP–3 gene, resulting in a previously not described missense mutation S170C segregated with the disease in the family. Conclusions: Clinical features resembling Sorsby Fundus Dystrophy were associated with a novel missense mutation in the TIMP–3 gene.

Keywords: retinal degenerations: hereditary • genetics • gene screening