A recent study on noncanonical CNGB3 gene variants revealed that most of them disrupt RNA splicing, leading to their reclassification as disease-causing, with potential implications for genetic diagnosis and eligibility for gene therapy in achromatopsia. This gene encodes a subunit critical for color vision, and its mutations are a major cause of autosomal recessive achromatopsia, a rare inherited retinal disorder characterized by poor color discrimination and low visual acuity.

Source: The Journal of Pathology