We did not observe potentially pathogenic variants in 10 potential regulatory regions of the USH2A gene6 nor in the known retinal disease modifier PDZD7.19 Improved knowledge on USH2A regulatory elements, potential modifiers, being either protective or negative, or potentially digenic inheritance patterns is likely to result in more precise classification of variants in the future. The gene discussed is USH2A; the disease is Abnormal retinal morphology.