Clinical differential diagnosis included ocular albinism, achromatopsia, and CSNB and the latter was supported by the identification of a novel hemizygous missense variant (c.1079C>T, Table 1) in the CACNA1F gene (NCBI Reference Sequence NM_005183.4) resulting in an amino acid exchange at an evolutionarily highly conserved position (p.(Ser360Phe)) in the α1F subunit of the Cav1.4 calcium channel. The gene discussed is CACNA1F; the disease is ocular albinism.