Previously, CRB1 gene variants were reported to cause RP, LCA, cone-rod dystrophy and macular dystrophy phenotypes from different populations and are associated with characteristic fundus changes in the eye, particularly in the macula, often presenting with early-onset maculopathy and nummular pigmentation deposits, indicating significant damage to the retinal structure causing severe vision loss in affected individuals (Figure 2B and Supplementary Figure S5A) [11,12]. Here, CRB1 is linked to Cone rod dystrophy.