Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement

Bi-allelic ultra-rare variants in FSD1L are identified as a cause of retinitis pigmentosa. One variant identified disrupts the splicing of a retina-enriched isoform. FSD1L localizes to the photoreceptor axoneme, implicating disruption of intracellular trafficking as a possible mechanism for photoreceptor degeneration.