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

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S). Fully referenced neurology checklist.

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

Locked: subscribe to see this section.

Systemic features

Locked: subscribe to see this section.

Fundoscopy: features

Locked: subscribe to see this section.

Differential diagnosis

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI) brain: features

Locked: subscribe to see this section.

Fluorescein angiography: features

Locked: subscribe to see this section.

Optical coherence tomography (OCT): features

Locked: subscribe to see this section.

Treatment

Locked: subscribe to see this section.

Synonyms

Locked: subscribe to see this section.

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).

Related checklists

Loading...