Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.

ABSTRACT: Mutations in the photoreceptor-specific C2orf71 gene (also known as photoreceptor cilium actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and cone-rod dystrophy. No treatments are available for patients with C2orf71 retinal ciliopathies exhibiting a severe clinical phenotype. Our understanding of the disease process and the role of PCARE in the healthy retina significantly limits our capacity to transfer recent technical developments into viable therapy choices. This study summarizes the current understanding of C2orf71-related retinal diseases, including their clinical manifestations and an unclear genotype-phenotype correlation. It discusses molecular and functional studies on the photoreceptor-specific ciliary PCARE, focusing on

SUBMITTER: Zufiaurre-Seijo M 

PROVIDER: S-EPMC10341768 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature