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Congenital nystagmus, involuntary oscillating small eye movements, is commonly thought to originate from aberrant interactions between brainstem nuclei and foveal cortical pathways. Here, we investigated whether nystagmus associated with congenital stationary night blindness (CSNB) results from primary deficits in the retina. We found that CSNB patients as well as an animal model ( nob  mice), both of which lacked functional nyctalopin protein (NYX, nyx) in ON bipolar cells (BCs) at their synapse with photoreceptors, showed oscillating eye movements at a frequency of 4–7 Hz.  nob  ON direction-selective ganglion cells (DSGCs), which detect global motion and project to the accessory optic system (AOS), oscillated with the same frequency as their eyes. In the dark, individual ganglion cells (GCs) oscillated asynchronously, but their oscillations became synchronized by light stimulation. Likewise, both patient and  nob  mice oscillating eye movements were only present in the light when contrast was present. Retinal pharmacological and genetic manipulations that blocked  nob  GC oscillations also eliminated their oscillating eye movements, and retinal pharmacological manipulations that reduced the oscillation frequency of  nob  GCs also reduced the oscillation frequency of their eye movements. We conclude that, in  nob  mice, synchronized oscillations of retinal GCs, most likely the ON-DCGCs, cause nystagmus with properties similar to those associated with CSNB in humans. These results show that the  nob  mouse is the first animal model for a form of congenital nystagmus, paving the way for development of therapeutic strategies.

Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells