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The Retinitis Pigmentosa Genes

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Advances in Vision Research, Volume III

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

Abstract

Retinitis pigmentosa (RP), the most common form of inherited retinal dystrophies (IRDs), is a monogenic disease with remarkable genetic heterogeneities. All three types of Mendelian inheritance patterns have been found associated with RP, including autosomal dominant, recessive, and X-linked modes. By far, 87 genes and 7 loci have been linked to RP. These genes show variable expression patterns and are involved in multiple biological pathways, such as phototransduction cascade, visual cycle, ciliary structure and transport, and so on. In this chapter, we will talk about genes involved in RP etiology. Currently, no generally applicable treatment has been developed for RP, therefore better insights into the RP etiology will help with better management of RP patients.

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Authors and Affiliations

  1. Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China

    Xue Chen

  2. Department of Ophthalmology and Vision Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China

    Chen Zhao

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    Gyan Prakash

  2. National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

    Takeshi Iwata

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Chen, X., Zhao, C. (2021). The Retinitis Pigmentosa Genes. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume III. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-15-9184-6_16

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  • DOI: https://doi.org/10.1007/978-981-15-9184-6_16

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