scholarly journals GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness

2012 ◽  
Vol 90 (2) ◽  
pp. 331-339 ◽  
Author(s):  
Neal S. Peachey ◽  
Thomas A. Ray ◽  
Ralph Florijn ◽  
Lucy B. Rowe ◽  
Trijntje Sjoerdsma ◽  
...  
Keyword(s):  
Bipolar Cell ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Cell Function ◽  
Congenital Stationary Night Blindness ◽  
Depolarizing Bipolar Cell

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 Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

2009 ◽  
Vol 85 (5) ◽  
pp. 711-719 ◽  
Author(s):  
Zheng Li ◽  
Panagiotis I. Sergouniotis ◽  
Michel Michaelides ◽  
Donna S. Mackay ◽  
Genevieve A. Wright ◽  
...  
Keyword(s):  
Bipolar Cell ◽  
Night Blindness ◽  
Cell Function ◽  
Congenital Stationary Night Blindness ◽  
Recessive Mutations

Mutations inGRM6Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram

2005 ◽  
Vol 46 (11) ◽  
pp. 4328 ◽  
Author(s):  
Christina Zeitz ◽  
Maria van Genderen ◽  
John Neidhardt ◽  
Ulrich F. O. Luhmann ◽  
Frank Hoeben ◽  
...  
Keyword(s):  
Night Blindness ◽  
Autosomal Recessive ◽  
Congenital Stationary Night Blindness

Congenital Stationary Night Blindness: Pathophysiology, Signs, Diagnosis, and Treatment

2021 ◽  
pp. 155-158
Keyword(s):  
Molecular Genetics ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Common Type ◽  
Diagnosis And Treatment ◽  
Recessive Trait ◽  
Congenital Stationary Night Blindness ◽  
Dominant Inheritance ◽  
Retinal Disorder

Congenital stationary night blindness (CSNB) is a nonprogressive inherited retinal disorder characterized by lifelong night blindness. The Schubert-Bornschein type is the most common type of CSNB. The disease is most commonly inherited as an X-linked recessive trait, but can also have an autosomal recessive and rarely autosomal dominant inheritance. Clinical, electrophysiological, and molecular genetics about CSNB are reviewed in this paper.

scholarly journals Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

2012 ◽  
Vol 91 (1) ◽  
pp. 209
Author(s):  
Isabelle Audo ◽  
Kinga Bujakowska ◽  
Elise Orhan ◽  
Charlotte M. Poloschek ◽  
Sabine Defoort-Dhellemmes ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Congenital Stationary Night Blindness ◽  
Whole Exome

scholarly journals GNAT1Associated with Autosomal Recessive Congenital Stationary Night Blindness

2012 ◽  
Vol 53 (3) ◽  
pp. 1353 ◽  
Author(s):  
Muhammad Asif Naeem ◽  
Venkata R. M. Chavali ◽  
Shahbaz Ali ◽  
Muhammad Iqbal ◽  
Saima Riazuddin ◽  
...  
Keyword(s):  
Night Blindness ◽  
Autosomal Recessive ◽  
Congenital Stationary Night Blindness

scholarly journals Next-generation sequencing confirms the implication ofSLC24A1in autosomal-recessive congenital stationary night blindness

2016 ◽  
Vol 89 (6) ◽  
pp. 690-699 ◽  
Author(s):  
M. Neuillé ◽  
S. Malaichamy ◽  
M. Vadalà ◽  
C. Michiels ◽  
C. Condroyer ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Congenital Stationary Night Blindness ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

2013 ◽  
Vol 92 (1) ◽  
pp. 67-75 ◽  
Author(s):  
Christina Zeitz ◽  
Samuel G. Jacobson ◽  
Christian P. Hamel ◽  
Kinga Bujakowska ◽  
Marion Neuillé ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Congenital Stationary Night Blindness ◽  
Whole Exome
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