TOR1A was shown to be critical for synapse formation and hence, for organizing connectivity in the spinal sensorimotor circuit (91); TOR1A mutations are observed in cases of early-onset torsion dystonia (92) and have been linked to late-onset focal, segmental, and multifocal dystonia including BSP, OMD, and MS (42, 72, 73). Here, TOR1A is linked to occult macular dystrophy.