A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys–Dietz syndrome due to a pathogenic variant in TGFBR2

This case highlights the importance of a genotype to phenotype relationship in LDS and suggests that certain variants in TGFBR2 may predispose to vitreoretinopathy. Recognition of this is important as timely anti-VEGF and laser intervention can limit visual threatening complications.