Prominin-1 null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy, and RPE atrophy.

ABSTRACT: Mutations in the PROMININ-1 (PROM1) gene are associated with inherited, non-syndromic vision loss. Here, we used CRISPR/Cas9 to induce truncating prom1-null mutations in Xenopus laevis to create a disease model. We then tracked progression of retinal degeneration in these animals from the ages of 6 weeks to 3 years old. We found that retinal degeneration caused by prom1-null is age-dependent and likely involves death or damage to the retinal pigment epithelium (RPE) that precedes photoreceptor degeneration. As prom1-null frogs age, they develop large cellular debris deposits in the subretinal space and outer segment layer which resemble subretinal drusenoid deposits (SDD) in their location, histology, and representation in color fundus photography

SUBMITTER: Carr BJ 

PROVIDER: S-EPMC11185615 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature