The LRP5 splice site mutation (NM_002335.4: c.686 + 1 G > T) identified in patients with familial exudative vitreoretinopathy (FEVR) causes LRP5 gene downregulation, resulting in complete retinal detachment and bilateral blindness and decreased BMD (bone mineral density)144. This evidence concerns the gene LRP5 and Familial exudative vitreoretinopathy.