Heterozygous mutations in CRX cause early-onset retinal dystrophies with extensive phenotypic heterogeneity, with rare reports of biallelic variants in LCA (Huang et al., 2012; Hull et al., 2014; Ibrahim et al., 2018; Rivolta et al., 2001; Swaroop et al., 1999). The gene discussed is CRX; the disease is Leber congenital amaurosis.