Clinical and Pathological Features of Selected Human Retinal Degenerative Diseases

Abstract

The following chapter provides an overview of several important retinal degenerative conditions, with a focus on phenotypic description and correlation with the genetic basis as currently understood. The conditions selected for this chapter have been subdivided into those associated with either a generalized retinal degeneration, such as retinitis pigmentosa, Leber congenital amaurosis, and choroideremia, or those causing degeneration primarily affecting the macula, including age-related macular degeneration, ABCA4 retinal dystrophy, and Best disease. For each condition, coverage is also given to important investigative findings with optical coherence tomography, fundus autofluorescence, retinal angiography, and electrodiagnostic testing in addition to a description of their characteristic clinical features. It is hoped this chapter will enhance the reader’s understanding of the clinical aspects of these conditions and provide a practical link to current research in the field of cell-based therapy.