He was homozygous for the rare (0.000003099) in gnomAD) synonymous HGSNAT variant of unknown significance (ClinVar), p.(Ser376=), which has a low confidence prediction of loss of function (pLoF), but he also harbored a homozygous PROM1 stop‐gain pathogenic reported variant [c.1726C>T, p.(Gln576Ter)] which instead was the likely cause of his retinal disorder. The gene discussed is HGSNAT; the disease is retinal disorder.