Since a clinical diagnosis of RP was reached, a saliva sample was submitted for genetic testing, including gene sequencing and deletion/duplication analysis using NGS by Invitae Corp. showed that the patient was a compound heterozygote with mutations in the CRB1 gene with variants: c.481del, p.(Ala161Profs*45), and c.498_506del, p.(Ile167_Gly169del). Here, CRB1 is linked to retinitis pigmentosa 1.