A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration (Cell Reports)

CEP290 mutations are the leading cause of Leber congenital amaurosis, a devastating inherited blindness. Mookherjee et al. show that the in-frame deletion of Cep290 in rd16 mice can be complemented by expressing a cognate protein fragment in trans, suggesting a new avenue for therapy development of CEP290 mutations.