Article

PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects

2025-06-05

Abstract excerpt

Retinitis pigmentosa (RP) is an inherited retinal disorder characterized by the progressive loss of photoreceptors that currently lacks effective treatment. Here, we investigated the impact of the pathogenic PRPF8-Y2334N variant on neural retina cells in hiPSC-derived retinal organoids. Expression of this variant resulted in photoreceptor defects, including thinning of the outer segment layer. At the molecular lev...

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Literature Corpus work: ed0b2533-104b-570e-ad5c-7e4804d9a51a
DOI: 10.1101/2025.06.04.657822

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