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Retinitis Pigmentosa and Allied Disorders

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Inherited Chorioretinal Dystrophies

Abstract

There are more than 250 entries with the term retinitis pigmentosa in OMIM. More than half of them describe a systemic disease associated with retinal dystrophy, whether central, peripheral or mixed.

An erratum to this chapter can be found at http://dx.doi.org/10.1007/978-3-540-69466-3_54

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References

  1. Apushkin MA, Fishman GA, Grover S, Janowicz MJ. Rebound of cystoid macular edema with continued use of acetazolamide in patients with retinitis pigmentosa. Retina. 2007;27:1112–8.

    Article  PubMed  Google Scholar 

  2. Berson EL, Sandberg MA, Rosner B, Drija TP. Natural course of retinitis pigmentosa over a three year interval. Am J Ophthalmol. 1985;99:240–51.

    Article  CAS  PubMed  Google Scholar 

  3. Berson EL. Retinitis pigmentosa: the Friedenwald lecture. Invest Ophthalmol Vis Sci. 1993;34:1659–76.

    CAS  PubMed  Google Scholar 

  4. Boughman JA, Conneally PP, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet. 1980;32:223.

    PubMed Central  CAS  PubMed  Google Scholar 

  5. Boughman JA, Fishman GA. A genetic analysis of retinitis pigmentosa. Br J Ophthalmol. 1983;66:405–16.

    Google Scholar 

  6. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984;97:67–75.

    Article  Google Scholar 

  7. De Bustros S, Miller NR, Finkelstein D, Massof R. Bilateral astrocytic hamartomas of the optic nerve heads in retinitis pigmentosa. Retina. 1983;3:21–3.

    Article  Google Scholar 

  8. De Laey JJ, Hanssens M. Vascular tumors and malformations of the ocular fundus. Dordrecht: Kluwer Academic Pbl; 1990. p. 193–209.

    Book  Google Scholar 

  9. Dickinson P, Mulhall L. A survey of hereditary aspects of pigmentary retinal dystrophies. Aust J Ophthalmol. 1989;17:247–56.

    Article  CAS  Google Scholar 

  10. Fetkenhour CL, Choromokos E, Weinstein J, Shoch D. Cystoid macular edema in retinitis pigmentosa. Trans Am Acad Ophthalmol Otolaryngol. 1977;83:512–21.

    Google Scholar 

  11. Fishman GA. Retinitis pigmentosa. Genetic percentages. Arch Ophthalmol. 1978;96:822.

    Article  CAS  PubMed  Google Scholar 

  12. Gartner S, Henkind P. Pathology of retinitis pigmentosa. Ophthalmology. 1982;89:1425–32.

    Article  CAS  PubMed  Google Scholar 

  13. Gouras P, Eggers HM, MacKay CJ. Cone dystrophy, nyctalopia and supernormal rod responses: a new retinal degeneration. Arch Ophthalmol. 1983;101:718–24.

    Article  CAS  PubMed  Google Scholar 

  14. Grover S, Fishman GA, Anderson RJ, Tozatti MS, Heckenlively JR, Weleber RG, Edwards AO, Brown Jr J. Visual acuity impairment in patients with retinitis pigmentosa at age 45 or older. Arch Ophthalmol. 1999;104:385–9.

    Google Scholar 

  15. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl. 2002;233:1–34.

    Article  PubMed  Google Scholar 

  16. Heckenlively JR. Retinitis pigmentosa. Philadelphia: J.B. Lippincott; 1988.

    Google Scholar 

  17. Hood DC, Cideciyan AV, Halevy DA, Jacobson SG. Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogram b-waves. Vision Res. 1996;36:889–901.

    Article  CAS  PubMed  Google Scholar 

  18. Hu D. Genetics aspects of retinitis pigmentosa in China. Am J Med Genet. 1982;12:51.

    Article  CAS  PubMed  Google Scholar 

  19. Imaizumi K. Statistical investigation on retinitis pigmentosa. Jpn J Clin Ophthalmol. 1971;25:293–304.

    Google Scholar 

  20. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982;66:405–16.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  21. Jay M. Figures and fantasies: the frequencies of the different genetics forms of retinitis pigmentosa. Birth defects. Birth Defects Orig Artic Ser. 1982;18:167–73.

    CAS  PubMed  Google Scholar 

  22. Jimenez-Sierra JM. Inherited retinal diseases. St. Louis: Mosby; 1988.

    Google Scholar 

  23. Karpe G. The basis of clinical electroretinography. Acta Ophthalmol. 1945;23(Suppl):1–114.

    Google Scholar 

  24. Katznelson LA, Khoroshilova-Maslova IP, Eliseyeva RF. A new method of treatment of retinitis pigmentosa/pigmentary abiotrophy. Ann Ophthalmol. 1990;22:167–72.

    CAS  PubMed  Google Scholar 

  25. Krill AE. Krill’s Hereditary retinal and choroidal diseases, Clinical characteristics, vol. II. Hagerstown: Harper & Row Pbl; 1977. p. 479–576.

    Google Scholar 

  26. Marc RE, Jones BW, Watt CB, Stretton E. Neural remodeling in retinal degeneration. Prog Retin Eye Res. 2003;22:607–55.

    Article  PubMed  Google Scholar 

  27. Massof RW, Benzschawel T, Emmel T, et al. The spread of retinal degeneration in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1985;25(Suppl):196.

    Google Scholar 

  28. Meyer KT, Heckenlively JR, Spitznas M, Foos RY. Dominant retinitis pigmentosa. A clinicopathologic correlation. Ophthalmology. 1982;89:1414–24.

    Article  CAS  PubMed  Google Scholar 

  29. Milam AH, Li ZY, Cideciyan AV, Jacobson SG. Clinico pathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1996;37:753–65.

    CAS  PubMed  Google Scholar 

  30. Milam AH, Li ZY, Fariss RN. Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res. 1998;17:175–205.

    Article  CAS  PubMed  Google Scholar 

  31. Novack RL, Foos RY. Drusen of the optic disc in retinitis pigmentosa. Am J Ophthalmol. 1987;103:44–7.

    Article  CAS  PubMed  Google Scholar 

  32. Oswald AH, Goldblatt J, Sampson G, Clokie R, Beighton P. Retinitis pigmentosa in South Africa. S Afr Med J. 1985;68:863–6.

    CAS  PubMed  Google Scholar 

  33. Panteleeva QA. On hereditary tapetoretinal degeneration (Russia). Vestan Oftalmol. 1969;8:53–6.

    Google Scholar 

  34. Pearlman JT, Flood TP, Seiff SR. Retinitis pigmentosa without pigment. Am J Ophthalmol. 1976;81:417–9.

    Article  CAS  PubMed  Google Scholar 

  35. Pearlman JT. Mathematical models of retinitis pigmentosa. A study of the rate of progress in the different genetic forms. Trans Am Ophthalmol Soc. 1979;77:643–56.

    PubMed Central  CAS  PubMed  Google Scholar 

  36. Pillai S, Limaye SR, Saimovici LB. Optic disc hamartoma associated with retinitis pigmentosa. Retina. 1983;3:24–6.

    Article  Google Scholar 

  37. Puech B, Kostrubiec B, Hache J-C, François P. Epidémiologie et prévalence des principales dystrophies rétiniennes héréditaires dans le Nord de la France. J Fr Ophthalmol. 1991;14:153–64.

    CAS  Google Scholar 

  38. Robertson DM. Hamartomas of the optic disc with retinitis pigmentosa. Am J Ophthalmol. 1972;74:526–31.

    Article  CAS  PubMed  Google Scholar 

  39. Ross DF, Fishman GA, Gilbert LD, Anderson RJ. Variability of visual field measurements in normal subjects and patients with retinitis pigmentosa. Arch Ophthalmol. 1984;102:1004–10.

    Article  CAS  PubMed  Google Scholar 

  40. Stone JL, Barlow WE, Humayun MS, de Juan Jr E, Milam AH. Morphometric analysis of macular photoreceptors and ganglion cells in retinitis pigmentosa. Arch Ophthalmol. 1992;110:1634–9.

    Article  CAS  PubMed  Google Scholar 

  41. Tanabe U. Genetic study of retinal pigmentary dystrophy (retinitis pigmentosa) in Japan. Jinrui Idengaku Zasshi. 1972;16:119–54.

    CAS  PubMed  Google Scholar 

  42. Tanino T, Ohba N. Studies on pigmentary retinal dystrophy. I.Age of onset of subjective symptoms and the mode of inheritance. Jpn J Ophthalmol. 1976;20:474–81.

    Google Scholar 

  43. Van Den Born LI, Bergen AAB, Bleeker-Wagemakers EM. A retrospective study of registered retinitis pigmentosa patients in the Netherlands. Ophthalmic paediatr Genet. 1992;13:227–36.

    Article  PubMed  Google Scholar 

  44. Weleber RG, Gregory-Evans K. Retinitis pigmentosa and allied disorders. In: Ryan S, editor. Retina. 4th ed. St Louis: Elsevier-Mosby; 2006. p. 395–498.

    Chapter  Google Scholar 

  45. Zamorani G. Una rare associazione di retinite di Coats con retinitis pigmentosa. G It Oftalmol. 1956;2:429–33.

    Google Scholar 

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Correspondence to Bernard Puech .

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Puech, B., De Laey, JJ. (2014). Retinitis Pigmentosa and Allied Disorders. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_9

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  • DOI: https://doi.org/10.1007/978-3-540-69466-3_9

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