Leber congenital amaurosis 5 protein (LCA5)

Leber congenital amaurosis 5 protein, also known as Lebercilin, is a microtubule-associated protein located in the connecting cilium of photoreceptor cells [UniProt Q86W23]. It serves as a vital component of the intraflagellar transport (IFT) system, facilitating the bidirectional movement of essential proteins between the inner and outer segments of the retina [PMID: 17529977]. Mutations in the LCA5 gene result in a severe form of early-onset blindness known as Leber congenital amaurosis type 5, characterized by rapid photoreceptor degeneration and profound vision loss from infancy [PubMed ID: 31053703]. Currently, LCA5 is a primary target for gene replacement therapy, with candidate treatments like ATSN-201 utilizing adeno-associated virus (AAV) vectors to deliver a functional version of the gene to the subretinal space [Atsena Therapeutics, NCT05876351]. By restoring the production of functional Lebercilin, these therapies aim to re-establish normal protein trafficking and preserve or restore visual function. Clinical evaluations for these interventions typically monitor efficacy through visual acuity tests and structural imaging such as optical coherence tomography [PMID: 35144136].

Other names

LebercilinLCA5C6orf152Chromosome 6 open reading frame 152

Gene augmentation (AAV-mediated delivery of functional LCA5 cDNA)