A retinal origin of nystagmus—a perspective

Kamermans, Maarten; Winkelman, Beerend H. J.; Hölzel, M-B.; Howlett, Marcus H. C.; Kamermans, Wouter; Simonsz, H. J.; de Zeeuw, C. I.

doi:10.3389/fopht.2023.1186280

Cited by 1 publication

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References 31 publications

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“…One hypothesis for the cause of nystagmus is a mal-adapted oscillating OKN loop (see Kamermans et al, 2023 for a discussion). Opening such a loop should stop oscillation throughout the loop and abolish nystagmus.…”

Section: Causal Relationship Between Rgcs and Eye Movement Oscillationsmentioning

confidence: 99%

A common cause for nystagmus in different congenital stationary night blindness mouse models

Hölzel,

Kamermans,

Winkelman

et al. 2023

The Journal of Physiology

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In Nyxnob mice, a model for congenital nystagmus associated with congenital stationary night blindness (CSNB), synchronous oscillating retinal ganglion cells (RGCs) lead to oscillatory eye movements, i.e. nystagmus. Given the specific expression of mGluR6 and Cav1.4 in the photoreceptor to bipolar cell synapses, as well as their clinical association with CSNB, we hypothesize that Grm6nob3 and Cav1.4‐KO mutants show, like the Nyxnob mouse, oscillations in both their RGC activity and eye movements. Using multi‐electrode array recordings of RGCs and measurements of the eye movements, we demonstrate that Grm6nob3 and Cav1.4‐KO mice also show oscillations of their RGCs as well as a nystagmus. Interestingly, the preferred frequencies of RGC activity as well as the eye movement oscillations of the Grm6nob3, Cav1.4‐KO and Nyxnob mice differ among mutants, but the neuronal activity and eye movement behaviour within a strain remain aligned in the same frequency domain. Model simulations indicate that mutations affecting the photoreceptor–bipolar cell synapse can form a common cause of the nystagmus of CSNB by driving oscillations in RGCs via AII amacrine cells. imageKey points In Nyxnob mice, a model for congenital nystagmus associated with congenital stationary night blindness (CSNB), their oscillatory eye movements (i.e. nystagmus) are caused by synchronous oscillating retinal ganglion cells. Here we show that the same mechanism applies for two other CSNB mouse models – Grm6nob3 and Cav1.4‐KO mice. We propose that the retinal ganglion cell oscillations originate in the AII amacrine cells. Model simulations show that by only changing the input to ON‐bipolar cells, all phenotypical differences between the various genetic mouse models can be reproduced.

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Section: Causal Relationship Between Rgcs and Eye Movement Oscillationsmentioning

confidence: 99%