A new autosomal dominant vascular retinopathy syndrome

Eur J Ophthalmol. 1991 Apr-Jun;1(2):73-8. doi: 10.1177/112067219100100204.

Abstract

We describe a new syndrome with autosomal dominant transmission whose most striking feature is vascular retinopathy. The retinopathy is often associated with migraine, Raynaud's phenomenon and mental changes, mainly forgetfulness, aggression and depression. To define this syndrome we collected medical data on 110 family members. General ophthalmological examination and fluorescein angiography were performed in 61 persons. The retinopathy, as diagnosed in 22 persons, is characterized by central and peripheral microangiopathy, areas of capillary non-perfusion, haemorrhages, cotton wool spots and, in a more advanced stage, occlusion of large retinal vessels, which can induce a neovascular response. A vascular occlusive disorder may be the common aetiological factor of the various manifestation of this syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Male
  • Middle Aged
  • Migraine Disorders / genetics*
  • Pedigree
  • Raynaud Disease / genetics*
  • Retinal Diseases / genetics*
  • Retinal Neovascularization / genetics
  • Retinal Vessels*
  • Syndrome
  • Visual Acuity
  • Vitreous Hemorrhage / genetics