SMPD1 and anterior segment dysgenesis: Nevertheless, the acid sphingomyelinase enzymatic assay result was 0.7 nmo/h/mL, below the normal range, and SMPD1 gene analysis detected homozygous c.1799G>A coding for p.R602H mutation (Figure 1) which is considered responsible for chronic visceral ASMD in homozygous or compound heterozygous mutations [28].