Article
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.
Vision research - 1 Feb 2023
Cideciyan Artur V, Jacobson Samuel G, Sumaroka Alexander, Swider Malgorzata, Krishnan Arun K, Sheplock Rebecca, Garafalo Alexandra V, Guziewicz Karina E, Aguirre Gustavo D, Beltran William A, Matsui Yoshitsugu, Kondo Mineo, Heon Elise
Abstract excerpt
The only approved retinal gene therapy is for biallelic RPE65 mutations which cause a recessive retinopathy with a primary molecular defect located at the retinal pigment epithelium (RPE). For a distinct recessive RPE disease caused by biallelic BEST1 mutations, a pre-clinical proof-of-concept for gene therapy has been demonstrated in canine eyes. The current study was undertaken to consider potential outcome...
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