Article

Dominant <i>RDH12</i> -retinitis pigmentosa impairs photoreceptor development and cone function in retinal organoids

2024-12-15

Abstract excerpt

Retinal dehydrogenase 12 (RDH12) is a photoreceptor NADPH-dependent retinal reductase enzyme, converting all- trans -retinal to all- trans -retinol. Heterozygous variants in RDH12 cause a rare autosomal dominant (AD) retinitis pigmentosa. As no disease models exist, we generated human induced pluripotent stem cell derived retinal organoids (RO) from a RDH12- AD patient (with pathogenic c.759del p.(Phe254Leufs*...

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Literature Corpus work: 31a1def7-2d3b-5ef7-8826-00ac0ddc4119
DOI: 10.1101/2024.12.11.627489

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