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Retinal Vasculopathy With Cerebral Leukoencephalopathy Mimicking a Brain Tumor: A Case Report
Juan Carlos Villegas Hernández1, Christian Edward Sánchez Sánchez2, Karla Karyme Sahagún Leyva3
1Neuropathology, Instituto Nacional de Neurología y Neurocirugía, Mexico City, MEX.
Cureus
|March 30, 2026
Summary
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare genetic disorder. This case highlights RVCL's potential to mimic brain tumors, emphasizing the need for genetic testing and detailed pathology in diagnosis.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Retinal vasculopathy with cerebral leukodystrophy (RVCL) is an adult-onset, autosomal dominant genetic disorder.
- It is caused by C-terminal frameshift mutations in the TREX1 gene, affecting protein localization.
- Clinical presentation includes progressive visual impairment and neurological decline, with characteristic brain MRI findings.

