The proband of Family P30 was a 2-year-old boy, the current clinical information provided by his mother showed that he had high myopia (-7D) bilaterally, the boy had compound heterozygous variants (p. Gly1961Arg and p. Gly469Arg) in ABCA4 which were inherited from his father and mother, respectively, and a hemizygous CNV—exon1 del in NXY inherited from mother. This evidence concerns the gene ABCA4 and myopia.