The Specific Pathogenicity Pattern of the Different <i>CRB1</i> Isoforms Conditions Clinical Severity in Inherited Retinal Dystrophies.

ABSTRACT: Pathogenic variants in Crumbs homolog 1 (CRB1) cause a wide range of severe ocular diseases, most commonly Leber congenital amaurosis and other forms of adult-onset macular dystrophy that lead to vision loss. Despite this broad clinical spectrum, the expression and function of CRB1 in retinal cells remains underexplored. In this study, we show a comprehensive characterization of CRB1 isoforms in several human retinal models like retinal organoids. Although CRB1 is predominantly expressed in photoreceptors and Müller glial cells, we also detected its expression in the human retinal pigment epithelium (RPE). Moreover, we observed defined expression patterns of CRB1 isoforms depending on the maturation stage of retinal cells, suggesting a role for this prote

SUBMITTER: Siles L 

PROVIDER: S-EPMC12692272 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature