Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3

Am J Hum Genet. 2001 Aug;69(2):447-53. doi: 10.1086/321975. Epub 2001 Jun 28.


We performed a genomewide search for linkage in an extended Dutch family with hereditary vascular retinopathy associated with migraine and Raynaud phenomenon. Patients with vascular retinopathy are characterized by microangiopathy of the retina, accompanied by microaneurysms and telangiectatic capillaries. The genome search, using a high throughput capillary sequencer, revealed significant evidence of linkage to chromosome 3p21.1-p21.3 (maximum pairwise LOD score 5.25, with D3S1578). Testing of two additional families that had a similar phenotype, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke, revealed linkage to the same chromosomal region (combined maximum LOD score 6.30, with D3S1588). Haplotype analysis of all three families defined a 3-cM candidate region between D3S1578 and D3S3564. Our study shows that three autosomal dominant vasculopathy syndromes with prominent cerebroretinal manifestations map to the same 3-cM interval on 3p21, suggesting a common locus.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping*
  • Chromosomes, Human, Pair 3 / genetics*
  • Female
  • Haplotypes / genetics
  • Humans
  • Kidney Diseases / genetics*
  • Kidney Diseases / pathology
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Middle Aged
  • Migraine Disorders / complications
  • Migraine Disorders / genetics
  • Molecular Sequence Data
  • Netherlands
  • Pedigree
  • Penetrance
  • Raynaud Disease / complications
  • Raynaud Disease / genetics
  • Retinal Diseases / complications
  • Retinal Diseases / genetics*
  • Retinal Diseases / pathology
  • Stroke / genetics*
  • Vascular Diseases / complications
  • Vascular Diseases / genetics*
  • Vascular Diseases / pathology

Associated data

  • OMIM/164500
  • OMIM/192315
  • OMIM/276905