Chapter

Achromatopsia-Rod Monochromacy

Susanne Kohl

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/9780195326147.003.0025

Series: Oxford Monographs on Medical Genetics

Achromatopsia-Rod Monochromacy

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Achromatopsia is also referred to as rod monochromacy (or rod monochromatism), complete (or total) color blindness (OMIM 216900, 262300, and 139340) or day blindness (hemeralopia) and is inherited as an autosomal recessive trait. This chapter covers clinical description, clinical diagnosis (including colour vision tests, electrophysiology, fundus appearance and visual fields, and optical coherence tomography. Management and visual aids, prevalence, and the genetic basis (CNGA3, CNGB3, GNAT2, and PDE6C) of Achromatopsia are discussed. Several animal models have been identified carrying mutations in the achromatopsia associated genes or have been generated to help clarify the underlying pathogenic mechanisms, and this chapter discusses the CNGA3 knockout mouse, CNGA3 sheep, dog models for CNGB3, the GNAT2CPFL3 mouse, and the DE6C - CPFL1 MOUSE. Finally the chapters looks at treatment using gene therapy in animal models.

Chapter.  6142 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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