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Article

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?

Immunity, inflammation and disease - 1 Aug 2024

Wang Xinhui, Su Li, Han Jinming, Han Yilai, Yin Yunsi, Huang Jiancheng, Tang Yi, Zhao Yi, Qin Qi

Abstract excerpt

BACKGROUND: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant systemic microvascular disorder attributed to TREX1 (three-prime repair exonuclease-1) gene mutations, often proned to misdiagnosed. METHODS: We reported a case of RVCL-S coexisting with systemic lupus erythematosus due to a mutation in the TREX1 gene. This study provided a summary...

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Identifiers

PMID: 39119967
DOI: 10.1002/iid3.1367
PMCID: PMC11310852

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