Exudative vitreoretinopathy is a rare vitreoretinal dystrophy characterized by prematurely interrupted blood vessel development in the peripheral retina. In its typical form, large portions of avascular retina in the temporal periphery are associated with arteriovenous anastomoses and neovascular proliferations around the ischaemic area, a peripheral temporal fibrovascular mass, and a peculiar pattern of retinal vessels (vessels stretch toward temporal periphery making an acute angle as they leave the optic disk). Complications may be severe, including vitreous hemorrhage, exudation of lipids in the retina, macular edema, ectopic macula, retracted vitreous causing a fold in the retina from the optic disk to the temporal edge, and retinal detachment. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient's history. Several types of transmission have been observed: autosomal dominant, X-linked recessive and autosomal recessive. Mutations in the frizzled-4 gene (FZD4) that maps to 11q13-q23 account for 20% of autosomal dominant forms. Mutation in the LRP5 gene, which maps to 11q13.4, has also been demonstrated to cause autosomal dominant. At least one other autosomal dominant form of exudative vitreoretinopathy maps to 11p13-p12. The X-linked form is caused by mutation in the Norrie disease gene (at Xp11.4). FZD4 and LRP5 are both Wnt receptors, which underlines the significance of Wnt signaling in the vascularization of the eye. Severity of the condition varies greatly from one patient to another, ranging from frequent minor asymptomatic forms to severe forms with infantile or juvenile onset (until about age 20). Surgical treatment may be effective in stopping progression.
Last update: August 2004