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Retinal Phenotype of an X-Linked Pseudo-usher Syndrome in Association with the G173R Mutation in the RPGR Gene

  • Alessandro Iannaccone
  • Mohammad I. Othman
  • April D. Cantrell
  • Barbara J.Jennings
  • Kari Branham
  • Anand Swaroop
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 613)

Retinitis pigmentosa (RP) is the most common hereditary retinal degeneration, affecting approximately 1:3,500 individuals (Iannaccone, 2005). X-linked recessive RP (XLRP) accounts for about 10–20% of cases and, typically, causes one of the most severe forms of RP (Iannaccone, 2005). To date, two of the genes responsible for XLRP have been cloned, RP2 (Schwahn et al., 1998) and the retinitis pigmentosa GTPase regulator, RPGR (Meindl et al., 1996; Roepman et al., 1996). Mutations in the RPGR gene account for the majority of cases of XLRP (Breuer et al., 2002).

Keywords

Hearing Loss Retinitis Pigmentosa Night Blindness G173R Mutation Usher Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Alessandro Iannaccone
    • 1
  • Mohammad I. Othman
    • 2
  • April D. Cantrell
    • 3
  • Barbara J.Jennings
    • 4
  • Kari Branham
    • 5
  • Anand Swaroop
    • 6
  1. 1.Hamilton Eye Institute, Department of OphthalmologyUniversity of Tennessee Health Science CenterMemphisUSA
  2. 2.Kellogg Eye Center, Department of Ophthalmology and Visual SciencesUniversity of MichiganAnn ArborUSA
  3. 3.Hamilton Eye Institute, Department of OphthalmologyUniversity of Tennessee Health Science CenterMemphisUSA
  4. 4.Hamilton Eye Institute, Department of OphthalmologyUniversity of Tennessee Health Science CenterMemphisUSA
  5. 5.Kellogg Eye Center, Department of Ophthalmology and Visual SciencesUniversity of MichiganAnn ArborUSA
  6. 6.Kellogg Eye Center, Department of Ophthalmology and Visual SciencesUniversity of MichiganAnn ArborUSA

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