Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Hereditary endotheliopathy, retinopathy, nephropathy, and stroke

Other Names for this Disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


Newline Maker

How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited?

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene.

The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. However, recent genetic studies have shown that these 3 conditions are likely variations of RVCL and are now known to be caused by mutations in the TREX1 gene.[1][2]
Last updated: 10/9/2013

  1. Cohn AC, Kotschet K, Veitch A, Delatycki MB, McCombe MF. Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. Clin Experiment Ophthalmol. April 2005; 33(2):181-183.
  2. David Kavanagh et al. New roles for the major human 3'–5' exonuclease TREX1 in human disease. Cell Cycle. June 15, 2008; 7(12):1718-1725.