1. Achromatopsia is a rare inherited retinal disorder characterized by poor color discrimination and low visual acuity.
2. Mutations in the CNGB3 gene, responsible for color vision, are a major cause of autosomal recessive achromatopsia.
3. Noncanonical variants of the CNGB3 gene disrupt RNA splicing and were reclassified as disease-causing.
4. Functional assays are vital in supplementing genetic predictions for inherited retinal disorders.
5. The study evaluated the accuracy of splicing prediction tools and highlighted the importance of experimental validation.

Source: The Journal of Pathology