Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature.

ABSTRACT: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant microvascular disorder caused by C-terminal truncating mutations in TREX1 gene, which impair protein localization and lead to multisystem involvement. We report a patient carrying the pathogenic TREX1 variant NM_033629.6:c.703dup (p.Val235fs), the most frequently described mutation in RVCL-S, whose clinical course was consistent with the classic phenotype but with simultaneous pulmonary granulomatous lesions compatible with sarcoidosis. Transcriptomic analysis in both the patient and his pre-asymptomatic daughter, who carries the same variant, revealed a similarly mild upregulation of inflammatory signaling pathways. Treatment with a Janus kinase inhibitor in the patient

SUBMITTER: Tato-Moreno P 

PROVIDER: S-EPMC12847430 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature