Research progress and prospects in molecular mechanisms of Leber congenital amaurosis

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy, and appears in the first year of life, accompanied by diabetes, obesity, and diabetes insipidus. However, there is no effective treatment for LCA. Seventeen genes involved in LCA have been identified, but these can only account for disease in approximately 70% of LCA patients. Most recently, several studies have shown that the NMNAT1 gene is also associated with LCA. This finding not only explains the genetic mechanism of some LCA cases, but also provides a theoretical basis for the diagnosis and gene therapy of LCA.