Protein Misfolding and Potential Therapeutic Treatments in Inherited Retinopathies

  • Lawrence C. S. TamEmail author
  • Anna-Sophia Kiang
  • Matthew Campbell
  • James Keaney
  • G. Jane Farrar
  • Marian M. Humphries
  • Paul F. Kenna
  • Pete Humphries
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 723)


Retinitis pigmentosa (RP) is a group of inherited retinopathies characterized by progressive peripheral vision loss that can subsequently lead to central vision loss. RP is one of the most common causes of registered visual handicap among those of the working age in developed countries, and currently it is estimated to affect 1 in 3,500 people worldwide. At the genetic level, RP is one of the most heterogeneous inherited conditions, segregating in autosomal dominant, recessive, or X-linked recessive modes, with approximately 40 genes having been implicated in the disease pathology ( To date, there is a growing list of destabilizing mutations within retinal-specific or nonspecific genes (e.g., RHO, RPGR, RS1, BBS6, AIPL1, RDS-peripherin, and IMPDH1, etc.) that have been found to cause proteins to misfold and become aggregation-prone with subsequent loss of normal protein functions. In this minireview, we will briefly explore the role protein misfolding plays as a disease mechanism in autosomal dominant RP and also highlight potential therapeutic strategies for inhibiting protein aggregation in the retina.


Retinitis pigmentosa Protein misfolding Heat shock protein Rhodopsin IMPDH1 RDS-peripherin Chaperones Gene therapy 



The Ocular Genetics Unit at TCD is supported by grants from Science Foundation Ireland (07-IN.1.B1778); The MRC/HRB (FB06HUM); The Wellcome Trust (083866/2/07/2): Enterprise Ireland (PC/2008/0006); Fighting Blindness Ireland (FB09HUM); IRCSET (G30364/G30409).


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Lawrence C. S. Tam
    • 1
    Email author
  • Anna-Sophia Kiang
    • 1
  • Matthew Campbell
    • 1
  • James Keaney
    • 1
  • G. Jane Farrar
    • 1
  • Marian M. Humphries
    • 1
  • Paul F. Kenna
    • 1
  • Pete Humphries
    • 1
  1. 1.Department of Genetics, The Ocular Genetics UnitTrinity College DublinDublin 2Ireland

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