Abstract
Inherited retinal diseases (IRDs), characterized by rod or cone photoreceptor degeneration, are a group of primarily monogenic disorders that represent an important cause of vision loss. IRDs are exceptionally heterogeneous, with many genetic mechanisms, known mutations, and hundreds of genes that can cause this disease. Essentially all types of inheritance are found among families with IRDs. This chapter summarizes the known modes of inheritance, provides a brief background on DNA mechanisms and the human genome, discusses the usefulness and pitfalls of genetic testing, and describes methods for detecting disease-causing genes and mutations in patients with IRDs. Because diseases of the retina are among the best understood human inherited disorders, a review of genetic mechanisms for IRDs largely covers the full spectrum of concepts relevant to human inherited diseases in general.
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