Several recent studies have identified biallelic ALMS1 variants in patients with Leber congenital amaurosis (LCA) or LCA-like RD, as well as with early-onset severe cone-rod dystrophy (CORD), as RD was usually the first and only clinical symptom of AS appearing in infants or toddlers (Khan et al., 2015; Wang et al., 2015; Xu et al., 2016; Xu et al., 2020). The gene discussed is ALMS1; the disease is Leber congenital amaurosis.