Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.

ABSTRACT: Leber congenital amaurosis (LCA) is a severe inherited retinal disorder manifesting at birth or in early infancy, with a subset of cases linked to mutations in the aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) gene. Initially identified as the disease locus for LCA4, AIPL1 exhibits a retina-specific expression pattern. Its protein product is a unique member of the FKBP family, distinguished by its specific structural features and specialized functions. A wide spectrum of mutations in AIPL1 is associated with varying severities of retinal degeneration, implicating diverse pathogenic mechanisms. While the early onset and rapid progression of AIPL1-related disorders pose a therapeutic challenge, significant progress in gene therapy has unlocked promi

SUBMITTER: Galieva A 

PROVIDER: S-EPMC12733016 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature