Titlebook: Inherited Retinal Disease; Hyeong-Gon Yu Book 2022 Springer Nature Singapore Pte Ltd. 2022 Inherited retinal disease.retinitis pigmentosa.

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Retinitis Pigmentosa,uch as a high-resolution spectral domain optical coherence tomography (OCT) revealed new aspects of RP [2]. In RP patients, the vision-specific quality of life cannot be explained only by visual acuity or field, and both are related to the visual function [3].

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Molecular Genetics of Inherited Retinal Diseases, but also the development of new therapeutic alternatives. In this chapter, we review the molecular genetic characteristics and techniques of genetic analysis associated with IRDs. We also discuss the molecular biology of the common mutations causing IRDs.

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Other Macular Dystrophies 2,na macular dystrophy, Doyne honeycomb retinal dystrophy, and Bietti’s crystalline dystrophy, in which gene variants have been identified as a cause of the disease. The purpose of this chapter is to provide an overview of these disorders.

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Syndromic Retinitis Pigmentosa,thy. A multidisciplinary approach is needed because systemic manifestations are quite heterogenous. In this chapter, inherited syndromic disorders showing typical pigmentary retinopathy will be described. Syndromic RP in this chapter includes Usher syndrome, ciliopathy, inborn errors of metabolism, and mitochondrial disorders (Table 5.2).