Retinal Function Testing and Genetic Disease

Luis A. R. Gabriel, Neal S. Peachey and Janet S. Sunness

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:

Series: Oxford Monographs on Medical Genetics

Retinal Function Testing and Genetic Disease

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This chapter will describe several specialized tests of retinal function: dark adaptation, electroretinography, electro-oculography, and visual evoked potentials. Visual field testing is well understood by most ophthalmologists and researchers in visual function, so attention will be focused on microperimetry (or fundus perimetry) as it has been applied to genetic retinal disease. Color vision is discussed elsewhere in this text and is therefore not described here. The use of these measures of visual function to diagnose and track the course of a disease will be described. In addition, some examples of the physiologic and pathophysiologic information we have learned from retinal function testing will be discussed in the various sections. The examples given in this chapter are limited to studies of retinal degenerations and macular dystrophies; a broader treatment of the use of these tests in other disorders may be found in a number of fine articles and books.10,11,12,13,14

Many specialized visual function tests take advantage of the different properties of rods and cones to selectively test the function of one photoreceptor type. These properties are listed in Table 20.1.

Chapter.  8751 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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