Autoimmune Retinopathy Complicating TLR7-related Monogenic Interferonopathy

Gain-of-function variants in the TLR7 gene have been associated with a spectrum of clinical manifestations, including systemic lupus erythematosus (SLE)-like disease, neuromyelitis optica, and progressive leukoencephalopathy. The p.(Leu528Ile) variant has previously been shown to underlie this constellation of findings. Here, we report the extended follow-up of a previously described young female patient with TLR7-related interferonopathy, who developed non-paraneoplastic autoimmune retinopathy following a failed attempt to taper her systemic immunomodulatory therapy. This case expands the phenotypic spectrum of TLR7-related disease and highlights a potential link between interferon-driven immune dysregulation and autoimmune retinal pathology.