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Genetic Pathways in Retinal Degenerations and Targets for Therapy 

Genetic Pathways in Retinal Degenerations and Targets for Therapy
Genetic Pathways in Retinal Degenerations and Targets for Therapy

Loh-Shan Bryan Leung

, Vinod Babu Voleti

, Jonathan H. Lin

, and Stephen H. Tsang

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date: 05 July 2022

Degenerative conditions of the retina are the leading cause of irreversible blindness in Western nations, yet our understanding of the pathophysiology of these conditions is limited. It has recently become clear, with progress in the field of molecular genetics, that genetic factors play a significant role in the pathogenesis of multiple retinal degenerations. This chapter focuses primarily on offering a framework for categorizing retinal degenerations and dystrophies that is mechanistic, rather than phenotypic, in nature. This may be applied broadly to disorders such as retinitis pigmentosa (RP), selected allied conditions, and syndromic disorders with retinal degeneration.

RP, a genetically and phenotypically heterogeneous condition, has greatly contributed to our understanding of the metabolic and biochemical pathways of photoreceptors (Figs. 21.1 and 21.2). Known as the most common inherited form of blindness, RP affects 1 in 3,000 individuals.1,2 Described inheritance patterns include autosomal dominant (15–35%), autosomal recessive (60%), X-linked (5–18%), and mitochondrial.3 However, approximately half of RP cases are isolated and the majority of these are likely inherited in an autosomal recessive fashion.

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