Chapter

Congenital Stationary Night Blindness

Elias I. Traboulsi, Bart P. Leroy and Christina Zeitz

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI: http://dx.doi.org/10.1093/med/9780195326147.003.0032

Series: Oxford Monographs on Medical Genetics

Congenital Stationary Night Blindness

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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.

Chapter.  4707 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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