However, no specific description of retinopathy in this condition was published until 2016, when a child with developmental delay who had a known disruptive variant in CTNNB1 was also found to have familial exudative vitreoretinopathy (FEVR) and retinal detachment (Dixon et al., 2016). The gene discussed is CTNNB1; the disease is Familial exudative vitreoretinopathy.