The main pathogenic variants were c.1448T>C (p.Leu483Pro) in the GBA gene, c.995C>G (p.Pro332Arg) in the SMPD1 gene, c.1901T>C (p.Leu634Ser) in the GALC gene, and c.2238G>C (p.Trp746Cys) in the GAA gene, contributing to the high prevalence of Gaucher, ASMD, Krabbe, and Pompe diseases in Shanghai. This evidence concerns the gene SMPD1 and anterior segment dysgenesis.