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

• DOI: 10.1371/journal.pbio.3000174
• Publication Date: 2019-09-12T17:25:35Z
• Authors: Beerend H. J. Win...; Marcus H. C. Howlett; Maj-Britt Hölzel; Coen Joling; Kathryn H. Fransen; Gobinda Pangeni; Sander Kamermans; Hiraki Sakuta; Masaharu Noda; Huibert J. Simonsz; Maureen A. McCall; Chris I. De Zeeuw; Maarten Kamermans
• Keywords: Male; Mice, Knockout; Retinal Ganglion Cells; 0301 basic medicine; QH301-705.5; EMC OR-01; Infant; Eye Diseases, Hereditary; Genetic Diseases, X-Linked; 3. Good health; Disease Models, Animal; 03 medical and health sciences; Night Blindness; Child, Preschool; Myopia; Animals; Humans; Female; Biology (General); Nystagmus, Congenital; Research Article

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 primary deficits in the retina. We found that CSNB patients as well an animal model (nob mice), both of which lacked functional nyctalopin protein (NYX, nyx) ON bipolar cells (BCs) at their synapse photoreceptors, showed movements a frequency 4–7 Hz. nob direction-selective ganglion (DSGCs), detect global motion project accessory optic system (AOS), oscillated same eyes. In dark, individual (GCs) asynchronously, but oscillations became synchronized by light stimulation. Likewise, patient mice were only present when contrast was present. Retinal pharmacological genetic manipulations blocked GC also eliminated retinal reduced oscillation GCs movements. conclude that, mice, GCs, most likely ON-DCGCs, cause properties similar those humans. These show mouse first for form paving way development therapeutic strategies.