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Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) is an autosomal dominant vasculitis affecting adults aged 35-50.¹ It should be suspected in those with retinal abnormalities, nephropathy, stroke, or positive family history. RVCL-S is due to a frameshift or nonsense mutation in the TREX1 gene.^1,2 Imaging presents as T2 hyperintense and T1 hypointense contrast enhancing white matter lesions.^1,3 Differential diagnosis includes malignancy, demyelinating disorders, and leukodystrophies. While there is no definite treatment, underrecognition can lead to invasive diagnostics and delayed genetic counseling.¹

References:

1. Miner J, Liszewski M, Atkinson J, Grant S, & Ford A. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. NORD (National Organization for Rare Disorders). Accessed April 25, 2022. https://rarediseases.org/rare-diseases/retinal-vasculopathy-cerebral-leukodystrophy/
2. Richards A, Van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39(9):1068-70; doi:10.1038/ng2082
3. Dhamija R, Schiff D, Lopes MB, Jen JC, Lin DD, Worrall BB. Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy. Neurology. 2015;85(18):1633-4; doi:10.1212/WNL.0000000000002092

Submitted by: Sara Hooshmand, MD, Department of Neurology, Mayo Clinic, Rochester, MN; and Sam Hooshmand, DO, Department of Neurology, Medical College of Wisconsin, Milwaukee, WI

Dr. Sara J. Hooshmand reports no disclosures; Dr. Sam I. Hooshmand reports serving on a Scientific Advisory Board for Genetech.