scholarly journals Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness

2021 ◽  
Vol 62 (3) ◽  
pp. 24
Author(s):  
Juliette Varin ◽  
Nassima Bouzidi ◽  
Miguel Miranda De Sousa Dias ◽  
Thomas Pugliese ◽  
Christelle Michiels ◽  
...  
Keyword(s):  
Mouse Model ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness

scholarly journals Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness

2015 ◽  
Vol 24 (21) ◽  
pp. 6229-6239 ◽  
Author(s):  
Miranda L. Scalabrino ◽  
Sanford L. Boye ◽  
Kathryn M. H. Fransen ◽  
Jennifer M. Noel ◽  
Frank M. Dyka ◽  
...  
Keyword(s):  
Mouse Model ◽  
Visual Function ◽  
Night Blindness ◽  
Bipolar Cells ◽  
Congenital Stationary Night Blindness ◽  
Aav Vector

scholarly journals A missense mutation in Grm6 reduces but does not eliminate mGluR6 expression or rod depolarizing bipolar cell function

2017 ◽  
Vol 118 (2) ◽  
pp. 845-854 ◽  
Author(s):  
Neal S. Peachey ◽  
Nazarul Hasan ◽  
Bernard FitzMaurice ◽  
Samantha Burrill ◽  
Gobinda Pangeni ◽  
...  
Keyword(s):  
Mouse Model ◽  
Missense Mutation ◽  
Mouse Models ◽  
Human Disease ◽  
Bipolar Cell ◽  
Night Blindness ◽  
Cell Function ◽  
Congenital Stationary Night Blindness ◽  
Depolarizing Bipolar Cell

This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a phenotype distinct from that seen in other Grm6 mouse models.

scholarly journals 498. Optimization of rAAV Targets ON Bipolar Cells and Rescues the nobnyx Mouse Model of X-Linked Congenital Stationary Night Blindness

2015 ◽  
Vol 23 ◽  
pp. S199
Author(s):  
Miranda L. White ◽  
Sanford L. Boye ◽  
Frank M. Dyka ◽  
Kathryn M. Fransen ◽  
Charles N. de Leeuw ◽  
...  
Keyword(s):  
Mouse Model ◽  
Night Blindness ◽  
Bipolar Cells ◽  
Congenital Stationary Night Blindness

scholarly journals A Light-Deprivation Mouse Model Potentially for Studying the Complete Congenital Stationary Night Blindness

2016 ◽  
Vol 06 (03) ◽  
pp. 181-183
Author(s):  
Chanyi Lu ◽  
Qiqin Li ◽  
Yaoyao Li ◽  
Yun Wang ◽  
Yun-Feng Zhang
Keyword(s):  
Mouse Model ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Light Deprivation

scholarly journals A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency

2021 ◽  
Vol 22 (9) ◽  
pp. 4424
Author(s):  
Elise Orhan ◽  
Marion Neuillé ◽  
Miguel de Sousa Dias ◽  
Thomas Pugliese ◽  
Christelle Michiels ◽  
...  
Keyword(s):  
Mouse Model ◽  
Night Blindness ◽  
Signal Transmission ◽  
Bipolar Cells ◽  
Congenital Stationary Night Blindness ◽  
Knock Out ◽  
Intron 1 ◽  
Knock Out Mice

Mutations in GPR179 lead to autosomal recessive complete congenital stationary night blindness (cCSNB). This condition represents a signal transmission defect from the photoreceptors to the ON-bipolar cells. To confirm the phenotype, better understand the pathogenic mechanism in vivo, and provide a model for therapeutic approaches, a Gpr179 knock-out mouse model was genetically and functionally characterized. We confirmed that the insertion of a neo/lac Z cassette in intron 1 of Gpr179 disrupts the same gene. Spectral domain optical coherence tomography reveals no obvious retinal structure abnormalities. Gpr179 knock-out mice exhibit a so-called no-b-wave (nob) phenotype with severely reduced b-wave amplitudes in the electroretinogram. Optomotor tests reveal decreased optomotor responses under scotopic conditions. Consistent with the genetic disruption of Gpr179, GPR179 is absent at the dendritic tips of ON-bipolar cells. While proteins of the same signal transmission cascade (GRM6, LRIT3, and TRPM1) are correctly localized, other proteins (RGS7, RGS11, and GNB5) known to regulate GRM6 are absent at the dendritic tips of ON-bipolar cells. These results add a new model of cCSNB, which is important to better understand the role of GPR179, its implication in patients with cCSNB, and its use for the development of therapies.

scholarly journals Substantial restoration of night vision in adult mice with congenital stationary night blindness

2021 ◽  
Author(s):  
Juliette Varin ◽  
Nassima Bouzidi ◽  
Gregory Gauvain ◽  
Corentin Joffrois ◽  
Melissa Desrosiers ◽  
...  
Keyword(s):  
Night Blindness ◽  
Night Vision ◽  
Congenital Stationary Night Blindness ◽  
Adult Mice

Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients

2021 ◽  
pp. 1-8
Author(s):  
Takaaki Hayashi ◽  
Yusuke Murakami ◽  
Kei Mizobuchi ◽  
Yoshito Koyanagi ◽  
Koh-Hei Sonoda ◽  
...  
Keyword(s):  
Older Adult ◽  
Night Blindness ◽  
Adult Patients ◽  
Congenital Stationary Night Blindness ◽  
Middle Aged
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