Abstract
Retinal vasculopathy with cerebral leukoencephalopathy (RVCL) is a rare, autosomal dominant disorder resulting from a frameshift three prime repair exonuclease 1 (TREX1) gene mutation. Identifying this gene mutation in the context of vascular retinopathy and brain dysfunction with T2 hyper intense white matter lesions is diagnostic of RVCL. The clinical and radiological presentations make it an important consideration in the assessment of patients investigated for suspected central nervous system (CNS) diseases such as: vasculitis, multiple sclerosis (MS), immune mediated encephalopathies, CNS infections and CNS malignancies.
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