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Review
. 2007 Feb;125(2):151-8.
doi: 10.1001/archopht.125.2.151.

Perspective on genes and mutations causing retinitis pigmentosa

Stephen P Daiger  1 , Sara J Bowne, Lori S Sullivan
Affiliations
Review

Perspective on genes and mutations causing retinitis pigmentosa

Stephen P Daiger et al. Arch Ophthalmol. 2007 Feb.

Abstract

Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa. An inescapable consequence is that the relationship between genes, mutations, and clinical findings has become very complex. Success in identifying the causes of inherited retinal diseases has many implications, including a better understanding of the biological basis of vision and insights into the processes involved in retinal pathology. From a clinical point of view, there are two important questions arising from these developments: where do we stand today in finding disease-causing mutations in affected individuals, and what are the implications of this information for clinical practice? This perspective addresses these questions specifically for retinitis pigmentosa, but the observations apply generally to other forms of inherited eye disease.

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Figures

Figure
Figure
Number of mapped and identified retinal disease genes from 1980 to 2006.
See this image and copyright information in PMC

References

    1. Daiger SP. The University of Texas Health Science Center. RetNet: Retinal Information Network. http://www.sph.uth.tmc.edu/RetNet/. Accessed December 1, 2006.
    1. Bessant DA, Ali RR, Bhattacharya SS. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev. 2001;11:307–316. - PubMed
    1. Dryja TP. Retinitis pigmentosa and stationary night blindness. In: Scriver CR, Beaudet AL, Sly WS, Vale D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill; New York, NY: 2001. pp. 5903–5934.
    1. Heckenlively JR, Daiger SP. Hereditary retinal and choroidal degenerations. In: Rimoin DL, Connor JM, Pyeritz RE, editors. Emery and Rimoin's Principles and Practice of Medical Genetics. 4th ed. Vol. 1. Churchill Livingston; New York, NY: 2002. pp. 2255–2576.
    1. Pacione LR, Szego MJ, Ikeda S, Nishina PM, McInnes RR. Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations. Annu Rev Neurosci. 2003;26:657–700. - PubMed

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