The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease

Abstract

The authors identified 12 FEVR probands with FZD4 mutations. FZD4 mutation screening can be a useful tool especially in mild or atypical cases of FEVR. Germ-line mutations in FZD4 do not appear to be a common cause of Coats disease.