CRB1 and Menkes disease: In the other family, 3 different CRB1 variants were found to be segregating; a great uncle inherited p.Cys195Phe and p.(Ser478ProfsTer24) and developed EOSRD/LCA, and 1 nephew harbored p.(Ser478ProfsTer24) and the in-frame p.(IIe167_Gly169del) and presented with MD.