In another patient with Leber congenital amaurosis or early onset severe retinal dystrophy, ES pinpointed a heterozygous c.1877_1878del:p.(Ile626Argfs*6) variant in PROM1. Given that recessive variations in PROM1 have previously been reported in patients with Leber congenital amaurosis,38 and considering the autosomal recessive inheritance pattern observed in this family, we conducted a search for a second variant within the same gene. The gene discussed is PROM1; the disease is Retinal dystrophy.