Identification and functional validation of a novel disease‐causing variant in the noncoding region of <i>NYX</i>

To our knowledge, this is the first report describing a noncoding variant in NYX causing CSNB but lacking high myopia. These results highlight the clinical importance of screening noncoding regions of known IRD genes in genetically unsolved cases. Whether the development of high myopia in cCSNB depends on the type and location of NYX variants remains to be elucidated.