press_release_conclusion: Scientists at the UCL Institute of Ophthalmology have identified the mechanism behind a common inherited cause of severe sight loss in young children. The results also point to a potential new treatment that may be possible to deliver by simple injection to the eye. The research was funded by charities Fight for Sight, Moorfields Eye Charity and Guide Dogs, with support from the National Institute for Health Research (NIHR) Biomedical Research Centre (BRC) at Moorfields Eye Hospital.
abstract_conclusion: These results provide a mechanistic understanding of the retina-specific phenotypes in CEP290 LCA patients and potential strategies for therapeutic intervention.