Several different names are used for the same autosomic dominant disease causing retinal vascular damage and affecting the white cerebral substance i.e.:
- cerebro-retinal autosomic-dominant vasculopathy
- hereditary vascular retinopathy
- HERNS syndrome (hereditary endotheliopathy, retinopathy, nephropathy and stroke)
This disease iscaused by mutations in the TREX1 gene situated on the short arm of chromosome 3. The gene is also implicated in other seemingly very different diseases such as Aicardi-Goutières syndrome and lupus.
Very recently, mutations in the C-terminal part of the single exon in the TREX-1 gene were described in this disease. These mutations cause a frameshift after the active protein sites. They result in the production of a truncated Trex-1 protein. This does not alter the activity of the protein but it does modify its sub-cellular distribution.
To meet the demand of clinicians, our laboratory has introduced the sequencing of the TREX-1 gene as a routine diagnosis .