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Article

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

International journal of molecular sciences - 26 Jun 2023

Zufiaurre-Seijo Maddalen, García-Arumí José, Duarri Anna

Abstract excerpt

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...

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Identifiers

PMID: 37445847
DOI: 10.3390/ijms241310670
PMCID: PMC10341768

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