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Syndromic Retinitis Pigmentosa

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Inherited Retinal Disease

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Abstract

Typical retinitis pigmentosa (RP) is defined as disease confined to eyeball. In some cases, mutations in known causal genes of RP result in the phenotype of RP and extraocular manifestations simultaneously. These genes are listed in Table 5.1. Moreover, there are systemic multi-organ disorders that show pigmentary retinopathy. Etiologies are variable including drug toxicity, infection, monogenic mutation. Some of these diseases have curable etiology or strategies to relieve or retard some conditions. Therefore, differential diagnosis is required to discriminate the cause of pigmentary retinopathy. 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).

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Authors and Affiliations

  1. Department of Ophthalmology, Seoul National University Hospital and Seoul National University College of Medicine, Seoul, Republic of Korea

    Chang Ki Yoon

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  1. Chang Ki Yoon
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  1. Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea (Republic of)

    Hyeong-Gon Yu

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Yoon, C.K. (2022). Syndromic Retinitis Pigmentosa. In: Yu, HG. (eds) Inherited Retinal Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7337-5_5

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  • DOI: https://doi.org/10.1007/978-981-16-7337-5_5

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