FDXR and Leber congenital amaurosis: In conclusion, biallelic pathogenic or likely pathogenic variants in FDXR are associated with heterogeneous ocular phenotypes, including EOSRD and congenital severe retinopathy resembling LCA, and similar fundus phenotype was observed in all patients with biallelic pathogenic or likely pathogenic variants in our cohort including complete optic disc pallor, silver wiring or severe attenuation of retinal vessels, and generalized retinal degeneration.