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<p>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.</p>

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Autoimmune Retinopathy Complicating TLR7-related Monogenic Interferonopathy

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月20日

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  • Alessio Antropoli,
  • Maria Vittoria Cicinelli,
  • Edoardo Balduzzi,
  • Lorenzo Bianco,
  • Elisabetta Martina,
  • Marco Zecca,
  • Francesco Bandello,
  • Elisabetta Miserocchi

摘要

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.