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Autosomal Dominant Retinitis Pigmentosa

Part of the Advances in Experimental Medicine and Biology book series (AEMB,volume 1085)

Abstract

More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal dominant (AD), autosomal recessive (AR), X-linked, and simplex forms (inheritance not known). The AD form accounts for approximately 15–25% of cases; AR, 5–20%; X-linked, 5–15%; and simplex, 40–50%.

Keywords

  • Autosomal dominant
  • Retinitis pigmentosa

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Suggested Reading

  • Borràs E, de Sousa Dias M, Hernan I, Pascual B, Mañé B, Gamundi MJ, et al. Detection of novel genetic variation in autosomal dominant retinitis pigmentosa. Clin Genet. 2013;84:441–52.

    CrossRef  Google Scholar 

  • Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132–41.

    CAS  CrossRef  Google Scholar 

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Correspondence to Tarun Sharma .

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Tsang, S.H., Sharma, T. (2018). Autosomal Dominant Retinitis Pigmentosa. In: Tsang, S., Sharma, T. (eds) Atlas of Inherited Retinal Diseases. Advances in Experimental Medicine and Biology, vol 1085. Springer, Cham. https://doi.org/10.1007/978-3-319-95046-4_15

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