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A common cause for nystagmus in different congenital stationary night blindness mouse models.
Hölzel, Maj-Britt; Kamermans, Wouter; Winkelman, Beerend H J; Howlett, Marcus H C; De Zeeuw, Chris I; Kamermans, Maarten.
Afiliación
  • Hölzel MB; Netherlands Institute for Neuroscience Amsterdam, Amsterdam, the Netherlands.
  • Kamermans W; Netherlands Institute for Neuroscience Amsterdam, Amsterdam, the Netherlands.
  • Winkelman BHJ; Netherlands Institute for Neuroscience Amsterdam, Amsterdam, the Netherlands.
  • Howlett MHC; Department of Neuroscience, Erasmus MC, Rotterdam, the Netherlands.
  • De Zeeuw CI; Netherlands Institute for Neuroscience Amsterdam, Amsterdam, the Netherlands.
  • Kamermans M; Netherlands Institute for Neuroscience Amsterdam, Amsterdam, the Netherlands.
J Physiol ; 601(23): 5317-5340, 2023 Dec.
Article en En | MEDLINE | ID: mdl-37864560
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 Cav 1.4 in the photoreceptor to bipolar cell synapses, as well as their clinical association with CSNB, we hypothesize that Grm6nob3 and Cav 1.4-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 Cav 1.4-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 , Cav 1.4-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. KEY 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 Cav 1.4-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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ceguera Nocturna / Nistagmo Congénito / Miopía Límite: Animals Idioma: En Revista: J Physiol Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ceguera Nocturna / Nistagmo Congénito / Miopía Límite: Animals Idioma: En Revista: J Physiol Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido