Genetics and therapy for pediatric eye diseases

Academic Article


  • Ocular morphogenesis in vertebrates is a highly organized process, orchestrated largely by intrinsic genetic programs that exhibit stringent spatiotemporal control. Alternations in these genetic instructions can lead to hereditary or nonhereditary congenital disorders, a major cause of childhood visual impairment, and contribute to common late-onset blinding diseases. Currently, limited treatment options exist for clinical phenotypes involving eye development. This review summarizes recent advances in our understanding of early-onset ocular disorders and highlights genetic complexities in development and diseases, specifically focusing on coloboma, congenital glaucoma and Leber congenital amaurosis. We also discuss innovative paradigms for potential therapeutic modalities.
  • Authors

    Published In

  • EBioMedicine  Journal
  • Digital Object Identifier (doi)

    Author List

  • Chen HY; Lehmann OJ; Swaroop A
  • Volume

  • 67