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Ophthalmology Commons

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University of Louisville

Electronic Theses and Dissertations

Night vision--Genetic aspects

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Retinal Synaptic Function In The Absence Of The On Pathway., Kathryn Marie Heath Fransen Dec 2014

Retinal Synaptic Function In The Absence Of The On Pathway., Kathryn Marie Heath Fransen

Electronic Theses and Dissertations

Complete Congenital Stationary Night Blindness (cCSNB) is a rare hereditary retinal disorder characterized by abnormal night vision. cCSNB is caused by postsynaptic defects in On bipolar cells (BCs) and is identified by the presence of an electroretinogram (ERG) with a normal a-wave, corresponding to photoreceptor function, and the absence of a b-wave, corresponding to a failure of On BC function. Through the study of genetic mutations in mouse that result in no b-wave ERG phenotypes, several proteins have been identified that play crucial roles in On BC signal transmission. I focused on four mouse models of cCSNB; Nyxnob (Nyctalopin mutant), …