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Congenital Stationary Night Blindness 

Congenital Stationary Night Blindness
Chapter:
Congenital Stationary Night Blindness
Author(s):

Elias I. Traboulsi

, Bart P. Leroy

, and Christina Zeitz

DOI:
10.1093/med/9780195326147.003.0032
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date: 25 November 2020

Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Ten different genes have been shown to be associated with CSNB without striking fundus abnormalities; three genes have been implicated to CSNB with fundus abnormalities. All these genes code for either proteins of the phototransduction cascade or proteins important in transmitting signals from the photoreceptors to adjacent bipolar cells. This chapter focuses on the clinical and molecular aspects of CSNB. It provides an overview about this heterogeneous group of diseases and covers recent progress in identifying genetic mutations and the potential for therapy based on understanding underlying molecular mechanisms.

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