Thus, a targeted exome sequencing of genes for inherited eye diseases was performed on genomic DNA obtained from the patient’s peripheral blood, and a hemizygous c.5881G>T (p.Ala1961Ser) variation in the CACNA1F gene and a homozygous c.1631C>T (p.Pro544Leu) variation in the CNGB1 gene were found. Here, CNGB1 is linked to eye disorder.