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Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations



Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare hereditary disease presenting with distinct imaging features in middle-aged adults. This article describes the typical imaging features focusing on the longitudinal course of RVCL-S lesions.


In this study six subjects (five male, five related) with RVCL-S were retrospectively included from two university hospitals. The median age of symptom onset was 40 ± 6 years. Magnetic resonance imaging (MRI) covering baseline and a median follow-up period of 33 months was reviewed in a structured way focusing on morphology, contrast enhancement and diffusion restriction of brain lesions.


All patients showed patchy, T2 hyperintense white matter lesions (mean number 7.7 ± 1.8) with a periventricular predominance at the frontal lobes (59%). In all subjects, rim-enhancing white matter lesions with temporary diffusion restriction were present for a mean of 5.0 ± 3.9 months. Median duration of blood brain barrier disruption was 20 months.


Periventricular patchy white matter lesions in the frontal lobes as well as rim-enhancing lesions with prolonged diffusion restriction and long-lasting contrast enhancement are characteristic imaging findings in RCVL-S and can be helpful in the differential diagnosis.

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We thank Dr. Uwe Ahting for performing genetic analyses on one patient included in this study.

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Correspondence to D. M. Hedderich.

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D.M. Hedderich, N. Lummel, M. Deschauer, T. Kümpfel, E. Schuh, M. Patzig, C. Zimmer and T. Huber declare that they have no competing interests.

Caption Electronic Supplementary Material


Suppl. Fig. 1: Pedigree showing relatives with RVCL-S in our cohort. Family members with available imaging data for review are marked with an asterisk (*)

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Hedderich, D.M., Lummel, N., Deschauer, M. et al. Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. Clin Neuroradiol 30, 229–236 (2020).

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  • Leukoencephalopathy
  • Neuroradiology
  • TREX1
  • RVCL-S
  • MRI