Taken together with the novel deletion reported in this study, these results led us to suggest that the predicted aberrant SAG gene products with a loss of either the COOH-terminus or the NH2-terminus caused by nonsense mutations, frameshift mutations, or large fragment deletions eliminating natural AUG codon, having great potential to impair or abolish the function of the SAG protein and thus cause its transcripts to be exposed to the NMD [25], will cause Oguchi’s disease. This evidence concerns the gene SAG and Oguchi disease.