Diagnosis and complementary examinations.

Abstract

Development of neuroprotective therapies requires an understanding of the mechanisms of retinal degeneration and a way to monitor response to treatment. With the increasing availability of genetic testing, precise characterization of the retinal degeneration phenotype is essential. This chapter covers standard and innovative diagnostic techniques and complementary examinations needed for the evaluation and treatment of retinal degenerative diseases. It aims to provide an overview of functional and structural diagnostic tools for the evaluation of retinal degenerative diseases, but is not intended as a comprehensive reference. Subjective assessment of visual function includes psychophysical tests, such as perimetry and microperimetry. Electrophysiology tests, such as the electroretinogram and electro-oculogram, are crucial in the assessment of retinal degenerative diseases and provide an objective assessment of global photoreceptor and retinal pigment epithelial cell function. Retinal structural measures are correlated with measures of retinal function to characterize the disease phenotype, including fundus photography using color, near-infrared, and autofluorescence imaging. Ocular perfusion can be assessed using fluorescein, indocyanine green, and noninvasive angiography. Optical coherence tomography provides information about retinal structure. Resolution of all images of retinal structure can be improved using adaptive optics, which permits visualization of individual photoreceptors and retinal pigment epithelial cells in the macula.