Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

Photoreceptors are neurons in the retina that are responsible for detecting light. We identified pathogenic DNA variants in SAXO6 in individuals with progressive blindness and discovered that SAXO6 is one of the proteins that likely stabilizes the distal part of photoreceptors, keeping retinal cells functional and healthy.