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

doi:10.3389/fimmu.2025.1707532

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Article

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

Frontiers in immunology - 1 Jan 2025

Tato-Moreno Patricia, Lavilla Olleros Cristina, Balastegui Martín Héctor, Barrientos Guerrero María, Mensa-Vilaro Anna, Durán-García María Esther, Sánchez-Mateos Paloma, García-Martínez Elena

Abstract excerpt

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,...

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Identifiers

PMID: 41613112
DOI: 10.3389/fimmu.2025.1707532
PMCID: PMC12847430

Genes

TREX1

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