Retinitis pigmentosa is a genetic disease causing degeneration of retinal pigment epithelial and photoreceptor cells. Here, the authors show that PNPLA6 regulates choline metabolism for retinal homeostasis, and its dysfunction leads to degeneration, which can be rescued by choline supplementation.
- Takashi Ono
- Yoshitaka Taketomi
- Makoto Murakami