Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.

Key Points

• The study aims to identify a novel noncoding variant in the NYX gene and its role in cone-rod dystrophy.
• Genetic screening of noncoding regions in known inherited retinal disease (IRD) genes.
• Functional validation of the identified NYX variant.
• Comparison of NYX variants in patients with and without high myopia.
• Identification of a novel noncoding variant in the NYX gene linked to CSNB.
• No association found between the NYX variant and high myopia.
• Emphasis on the need for further exploration of noncoding regions in genetically unresolved cases.