Gene augmentation therapy restores vision and preserves photoreceptors in a mouse model of CNGA1-retinitis pigmentosa.

ABSTRACT:

Background

Retinitis pigmentosa (RP) is a leading cause of blindness affecting 2 million people worldwide. Mutations in cyclic nucleotide-gated channel alpha 1 (CNGA1) account for 2-8% of autosomal recessive RP with no available treatment. Here we further evaluate our previously developed Cnga1^-/- mouse model. We aim to present detailed phenotype data and assess the therapeutic efficacy of gene augmentation in this model.

Methods

The retinal function and structure of Cnga1^-/- mice were accessed from postnatal month 1 to 6. AAV8-hRHO-mCnga1 was constructed and delivered into the subretinal space of 2-week-old Cnga1^-/- mice. Retinal function, photoreceptor survival, and vision-guided behavior were evaluated following treatment.

Results

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SUBMITTER: Wu Y 

PROVIDER: S-EPMC12405462 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature