Specific CNVs were detected in three patients: one involving exon 12 of EYS in a control patient, one in CRX (deletion of exons 3 and 4), a dominant LCA-associated gene, in a family (RP 522) with a poorly defined clinical history and another one in USH2A (deletion of exons 47–58) in an Usher patient (RP 236) who also presented two further USH2A variants and an adRP-associated mutation in CA4 (c.206G > A; p.Arg69His)18. This evidence concerns the gene CA4 and Leber congenital amaurosis.