Prashanth G. Iyer, Hao Zhou, Qinqin Zhang, Zhongdi Chu, Mengxi Shen, Yingying Shi, Jeremy Liu, Omer Trivizki, Byron L. Lam, Ruikang K. Wang, Giovanni Gregori, Philip J. Rosenfeld

Swept-source optical coherence tomography angiography (SS-OCTA) was used to analyze Bruch's membrane (BM) and choriocapillaris (CC) abnormalities in undiagnosed family members with Sorsby macular dystrophy (SMD). In a family with SMD (TIMP3 Tyr191Cys), SS-OCTA imaging was performed using the 6X6mm scan patter and previously validated algorithms to detect abnormalities in BM and the CC, as well as the presence of reticular pseudodrusen (RPD) and macular neovascularization (MNV). Genetic analyses were performed for TIMP3 mutations. Of eight family members, two were previously diagnosed with SMD and six were asymptomatic. SS-OCTA imaging of the 33-year-old proband revealed type 1 MNV in the left eye and bilateral RPD, thickening of BM, CC thinning, and increases in CC flow deficits (FDs). A TIMP3 mutation was confirmed. His niece, despite having no clinical evidence of SMD, showed BM thickening and CC thinning on SS-OCTA. A TIMP3 mutation was confirmed. The proband's younger nephew and niece also carried the TIMP3 mutation without clinical evidence of SMD. Two additional members had normal exams, unremarkable SS-OCTA findings, and no TIMP3 mutation. SS-OCTA imaging can detect BM and CC abnormalities in vivo in subjects unaware of their TIMP3 status in a family with SMD.