Moreover, the p.R494WLRP5 that affects the same amino acid of LRP5 was identified as a potential pathogenic variant in a patient with Familial Exudative Vitreoretinopathy (FEVR), adding further support to the critical role of this amino acid to produce functional LRP5 [47]. This evidence concerns the gene LRP5 and Familial exudative vitreoretinopathy.