Retinal vasculopathy with cerebral leukodystrophy

The disease is caused by heterozygous truncating TREX1 mutations and is associated with systemic type I interferon activation (Schuh E et al. 2015). It is counted among the type 1 interferonopathies.

Type 1 interferonopathies represent a group of rare, genetically and phenotypically heterogeneous disease patterns caused by a malfunction of the innate immune system (Crow YJ 2011). With the exception of multifactorial SLE, these are very rare diseases. Pathogenetically, type 1 interferonopathies are based on disturbances in metabolism and in the immunological recognition of intracellular nucleic acids.

Retinal vasculopathy with cerebral leukodystrophy manifests itself in young adulthood with progressive loss of visual acuity, cerebrovascular events and cognitive disorders (Richards A et al. 2007). In addition, migraine, Raynaud's syndrome and glomerulopathy may occur. Calcifications and lesions of the white matter are found in the brain.

1. Richards A et al (2007) C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 39:1068-1070
2. Schuh E et al (2015) Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. Neurol Neuroimmunol Neuroinflammation 2:e55
3. Stam AH et al (2016) Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain 139:2909-2922.