Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

Evidence-based neurology checklist on retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (rvcl-s): Genetics This is caused by mutations of the TREX1 C-terminal frame-shift gene The transmission is autosomal dominant It causes endothelial dysfunction The onset age is…

Genetics

  • This is caused by mutations of the TREX1 C-terminal frame-shift gene
  • The transmission is autosomal dominant
  • It causes endothelial dysfunction
  • The onset age is 35-50 years

Neurological features

Systemic features

Fundoscopy: features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: features

Fluorescein angiography: features

Optical coherence tomography (OCT): features

Treatment

Synonyms

References

  1. Stam AH, Kothari PH, Shaikh A, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain 2016; 139:2909-2922.
  2. Pelzer N, Bijkerk R, Reinders MEJ, et al. Circulating endothelial markers in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Stroke 2017; 48:3301-3307.
  3. de Boer I, Stam AH, Buntinx L, et al. RVCL-S and CADASIL display distinct impaired vascular function. Neurology 2018; 91:e956-963.
  4. Nagiel A, Lalane RA, Jen JC, Kreiger AE. Superficial and deep capillary ischemia as a presenting sign of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Retin Cases Brief Rep 2018; 12 (Suppl 1):S87-S91).

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