In humans, two rare pediatric eye diseases, familial exudative vitreoretinopathy (FEVR) and X-linked Norrie disease, correspond to the loss-of-function mutations in Norrin/Fzd4/LRP5 axis and/or several other genes and norrin (Ndp) gene, respectively. Here, LRP5 is linked to Familial exudative vitreoretinopathy.