University of Louisville
Retinal Dysfunction in the Trpm1/Tvrm27 Genotype: A New Animal Model of Congenital Stationary Night Blindness
Institution
University of Louisville
Faculty Advisor/ Mentor
Maureen McCall
Abstract
Complete Congenital Stationary Night Blindness (CSNB1) is a human disease characterized by the absence of a b-wave in the electroretinogram (ERG). The ERG is a mass electrical potential recorded at the corneal surface and the b-wave corresponds to the depolarization of retinal bipolar cells following a light flash. We have discovered that a mutant mouse, Tvrm27, is caused by a point mutation in the Trpm1 gene (Trpm1/Tvrm27 henceforth called Tvrm27). Characterizing the functionality of this mouse is of particular importance, due to the fact that most cases of CSNB1 are caused by genetic mutations like the Tvrm27 genotype, and not wholescale knockouts like the Trpm1 genotype. Results and conclusions of the study are: a proportion of Tvrm27 retinal ganglion cells show rhythmic bursting, lack of visual responses, and a delayed response to light onset.
Retinal Dysfunction in the Trpm1/Tvrm27 Genotype: A New Animal Model of Congenital Stationary Night Blindness
Complete Congenital Stationary Night Blindness (CSNB1) is a human disease characterized by the absence of a b-wave in the electroretinogram (ERG). The ERG is a mass electrical potential recorded at the corneal surface and the b-wave corresponds to the depolarization of retinal bipolar cells following a light flash. We have discovered that a mutant mouse, Tvrm27, is caused by a point mutation in the Trpm1 gene (Trpm1/Tvrm27 henceforth called Tvrm27). Characterizing the functionality of this mouse is of particular importance, due to the fact that most cases of CSNB1 are caused by genetic mutations like the Tvrm27 genotype, and not wholescale knockouts like the Trpm1 genotype. Results and conclusions of the study are: a proportion of Tvrm27 retinal ganglion cells show rhythmic bursting, lack of visual responses, and a delayed response to light onset.