Late-Stage Sorsby Fundus Dystrophy Manifesting Severe Vision Loss in the Absence of Choroidal Neovascularization

A patient with a family history of molecularly confirmed Sorsby fundus dystrophy (SFD) presented with 9 years of progressive, bilateral central vision loss. Specific mutation analysis of the TIMP3 gene confirmed SFD, identifying a pathogenic mutation of p.Ser204Cys:c.610A>T. Optical coherence tomography imaging revealed diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization (CNV). Although SFD is classically associated with CNV and subretinal fibrosis, some cases follow an atrophic course in the absence of CNV formation. This case highlights the extent to which extensive atrophic degeneration can lead to visual disability without choroidal neovascularization in late-stage SFD. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e215-e217.].