The advancements in precision medicine for Leber congenital amaurosis: Breakthroughs from genetic diagnosis to therapy.

Leber congenital amaurosis (LCA) is a hereditary retinal disease, typically manifesting as severe vision impairment in infancy. With the advancement of precision medicine, genetic diagnosis and targeted therapies offer new hope for LCA patients, significantly improving both diagnostic accuracy and therapeutic efficacy. We summarize the epidemiological characteristics, clinical manifestations, and molecular genetics underlying LCA. It also highlights recent developments in precision treatment strategies, including gene replacement therapy, CRISPR/Cas9-mediated gene editing, and antisense oligonucleotide therapies. In addition, we discuss the applications of induced pluripotent stem cells and retinal organoids in LCA treatment research. Furthermore, we explore preventive strategies and future treatment directions for LCA, including the development of novel gene therapy vectors, the optimization of combinatorial treatment strategies, and the formulation of personalized treatment approaches. These advancements hold significant potential to offer improved treatment options and enhance the quality of life for LCA patients.