Researchers from the National Eye Institute found TIMP3 variants cause atypical presentations of Sorsby fundus dystrophy, potentially indicating a different type of macular dystrophy not previously classified.
Sorsby fundus dystrophy (SFD) is associated with pathogenic variants of the TIMP3 gene evidenced by drusen and accumulations in the subretinal pigment epithelial space. It typically presents in adulthood with night blindness and visual acuity changes secondary to choroidal neovascularization.
In two families, two likely pathogenic variants of TIMP3, c.29T>A p.(Leu10His) and c.34G>C