SMPD1 and anterior segment dysgenesis: Newborn screening data using the NeoLSD MS/MS kit for dried blood spot enzyme activity, followed by lyso-sphingomyelin and molecular testing, were also analysed.<h4>Results</h4>The SMPD1 c.1497_1498inv variant was found in 62.5% of alleles among chronic neurovisceral ASMD cases, while c.995C > G appeared in 37.5% of chronic visceral ASMD cases and was also frequent in partial ASMD from newborn screening.