Compared with retinal dystrophy caused by the dominantly inherited PROM1 variant, patients with retinal dystrophy associated with recessive inherited PROM1 variants, such as CORD and Leber congenital amaurosis, have an early onset and more severe clinical phenotype and can present high myopia and vision loss at the early stage of the disease (Michaelides et al., 2010; Eidinger et al., 2015; Cehajic-Kapetanovic et al., 2019), which is highly consistent with the clinical phenotype of the patient in this study. This evidence concerns the gene PROM1 and Leber congenital amaurosis.