Summary
Hereditary vascular retinopathy (HVR) is characterised by retinal microangiopathy, retinal haemorrhages, central and peripheral vascular occlusions and telangiectatic capillaries, and is often associated with migraine and/or Raynaud's phenomenon. It is a very rare syndrome that has been reported in several members of one extended Dutch family. Transmission is autosomal dominant and the causative gene has been linked to a 3-cM interval on chromosome 3p21 (3p21.1-p21.3). The 3p21 region has also been implicated in two other vasculopathies, cerebroretinal vasculopathy (CRV) and hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS; see these terms). However, HVR can be distinguished from CRV and HERNS by its frequent association with Raynaud's phenomenon and absence of the prominent pseudotumors, seen in both CRV and HERNS. *Author: Orphanet (February 2007)*.
