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Clinical aspects: retinitis pigmentosa

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Neurobiology and Clinical Aspects of the Outer Retina

Abstract

The term ‘retinitis pigmentosa’ (RP) is used for a group of progressive retinal diseases representing one of the most frequent retinal hereditary dystrophies with a prevalence of 1:3000 to 1:5000. Detailed studies over the past years have shown that this condition is made up of genetically and clinically heterogeneous subtypes with different modes of genetic transmission and different types of progression (Merin and Auerbach, 1976; Heckenlively, 1988; Pagon, 1988). In their final stages, however, the disease conditions are identical showing diffusely affected photoreceptors and retinal pigment epithelial cells. Consequently, they are ophthalmologically difficult to distinguish from one another.

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References

  • Anderson, R.E., Maude, M.B., Alvarez, R.A. et al. (1991) Plasma lipid abnormalities in the miniature poodle with progressive rod-cone degeneration. Experimental Eye Research ,52, 349–55.

    Article  PubMed  CAS  Google Scholar 

  • Apfelstedt-Sylla, E., Bunge, S., David, D. et al. (1993) Phenotypes of carboxyl-terminal rhodopsin mutations in autosomal dominant retinitis pigmentosa, in: Retinal Degeneration (eds J.G. Hollyfield et al.) ,Plenum Press, New York.

    Google Scholar 

  • Bascom, R.A., Manara, S., Collins, L. et al. (1992) Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family indicated in human retinopathies. Neuron ,8, 1171–84.

    Article  PubMed  CAS  Google Scholar 

  • Berson, E.L., Rosen, J.B. and Simonoff, E.A. (1979) Electroretinographic testing as an aid in detection of carrier of X-chromosome linked retinitis pigmentosa. American Journal of Ophthalmology ,87, 460–8.

    PubMed  CAS  Google Scholar 

  • Berson, E.L., Sandberg, M.A., Rosner, B. et al. (1985) Natural course of retinitis pigmentosa. American Journal of Ophthalmology ,99, 240–51.

    PubMed  CAS  Google Scholar 

  • Berson, E.L., Rosner, B., Sandberg, M.A. et al. (1993) A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Archives of Ophthalmology ,111, 761–72.

    Article  PubMed  CAS  Google Scholar 

  • Bird, A.C. (1975) X-linked retinitis pigmentosa. British Journal of Ophthalmology ,59, 177–99.

    Article  PubMed  CAS  Google Scholar 

  • Bowes, C, Li, T., Dancinger, M. et al. (1990) Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. Nature ,347, 677–80.

    Article  PubMed  CAS  Google Scholar 

  • Chader, G.J. (1987) Biochemical studies of retinal degeneration in animal models and in the human, in Research in Retinitis Pigmentosa. Advances in the Biosciences ,vol. 62 eds E. Zrenner, H. Krastel and H.H. Goebel), Pergamon, Oxford-New York.

    Google Scholar 

  • Concerted Action of the European Communities (1994) Concerted Action News ,March.

    Google Scholar 

  • Converse, C.A., McLachlan, T., Packard, C.J. and Shepherd, J. (1987) Lipid abormalities in retinitis pigmentosa, in Zrenner E., Krastel H., Goebel H.H. (eds) Research in Retinitis Pigmentosa. Advances in the Biosciences ,vol. 62 (eds E. Zrenner, H. Krastel and H.H. Goebel), Pergamon, Oxford-New York.

    Google Scholar 

  • Dryja, T.P., McGee, T., Reichel, E. et al. (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature ,343, 364r-6.

    Article  PubMed  CAS  Google Scholar 

  • Dryja, T.P., Hahn, L.B., Cowley, G.S. et al. (1991) Mutation spectrum among patients with autosomal dominant retinitis pigmentosa of the rhodopsin gene. Proceedings of the National Academy of Sciences USA ,88, 9370–4.

    Article  CAS  Google Scholar 

  • Faktorovich, E.G., Steinberg, R.H., Yasamura, D. et al. (1990) Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor. Nature ,347, 83–6.

    Article  PubMed  CAS  Google Scholar 

  • Farrar, G.J., Jordan, S.A., Kumar-Singh, R. et al. (1993) Extensive genetic heterogeneity in autosomal dominant retinitis pigmentosa, in Retinal Degeneration (eds J.G. Hollyfield et al.) ,Plenum Press, New York, pp.63–77.

    Chapter  Google Scholar 

  • Fishman, G.A., Weinberg, A.B. and McMahon, T.T. (1986) X-linked recessive retinitis pigmentosa: clinical characteristics of carriers. Archives of Ophthalmology ,104, 1329–35.

    Article  PubMed  CAS  Google Scholar 

  • Fishman, G.A., Farber, M.D. and Derlacki, D.J.(1988) X-linked retinitis pigmentosa. Profile of clinial findings. Archives of Ophthalmology ,106, 369–75.

    Article  PubMed  CAS  Google Scholar 

  • Fishman, G.A., Gilbert, G.D., Fiscella, R.G. et al.(1989) Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Archives of Ophthalmology ,107, 1445–53.

    Article  PubMed  CAS  Google Scholar 

  • Foxman, S.G., Heckenlively, J.R., Bateman, J.B. and Wirtschafter, J.D. (1985) Classification of congenital and early onset retinitis pigmentosa. Archives of Ophthalmology ,103, 1502–6.

    Article  PubMed  CAS  Google Scholar 

  • Gouras, P.G., Flood, M.T., Kjeldbye, H. et al. (1985) Tranplantation of cultured human retinal epithelium to Bruch’s membrane of the owl monkey’s eye. Current Eye Research ,43, 253.

    Article  Google Scholar 

  • Heckenlively, J.R. (1988) Retinitis Pigmentosa. Lippincott, Philadelphia.

    Google Scholar 

  • Heckenlively, J.R. and Arden, G.B. (1991) Principles and Practice of Visual Electrophysiology ,Mosby, St Louis.

    Google Scholar 

  • Jacobson, S.G., Kemp, C.M., Sung, C.H. and Nathans, J. (1991) Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. American Journal of Ophthalmology ,112, 256–71.

    PubMed  CAS  Google Scholar 

  • Jay, M. (1982) On the heredity of retinitis pigmentosa. British Journal of Ophthalmology ,66, 405–16.

    Article  PubMed  CAS  Google Scholar 

  • Kaiser-Kupfer, M.I. and Valle, D.L. (1987) Clinical, biochemical and therapeutic aspects of gyrate atrophy. Progress in Retinal research ,6, 179–206.

    Article  Google Scholar 

  • Krastel, H. and Moreland, J. (1987) Cut-off filters and the acuity-luminance function in retinitis pigmentosa, in Advances in the Biosciences ,vol. 62 (eds E. Zrenner, H. Krastel and H.H. Goebel), Pergamon, Oxford, New York.

    Google Scholar 

  • Li, T., Berson, E.L., Dryja, T.P. and Roessler, B.J. (1994) In vivo gene transfer to normal and rd mouse retinas mediated by adenoviral vectors. Investigative Ophthalmology and Visual Science Suppl. ,35, 1716.

    Google Scholar 

  • Lolley, R.N., Rong, H. and Craft, CM. (1994) Linkage of photoreceptor degeneration by apoptosis with inherited defect in phototrans-duction. Investigative Ophthalmology and Visual Science ,35, 358–62.

    PubMed  CAS  Google Scholar 

  • Lyness, A.L., Ernst, W., Quinlan, M.P. et al. (1985) A clinical, psychophysical and electro-retinographic survey of patients with autosomal dominant retinitis pigmentosa. British Journal of Ophthalmology ,69, 326–39.

    Article  PubMed  CAS  Google Scholar 

  • Marmor, M.F., Aguirre, G., Arden, G.B. et al. (1983) Retinitis pigmentosa, a symposium on terminoloy and methods of examination. Ophthalmology ,90, 126–31.

    Google Scholar 

  • Marmor, M.F., Arden, G.B., Nilsson, S.E. and Zrenner, E. (1989) Standard for clinical electro-physiology. Archives of Ophthalmology ,107, 816–19.

    Article  Google Scholar 

  • Massof, R.W. and Finkelstein, D. (1979) Rod sensitivity relative to cone sensitivity in retinitis pigmentosa. Investigative Ophthalmology and Visual Science ,18, 263–72.

    PubMed  CAS  Google Scholar 

  • Massof, R.W. and Finkelstein, D. (1987) A two-stage hypothesis for the natural course of retinitis pigmentosa, in Advances in the Biosciences ,vol 62 (eds E. Zrenner, H. Krastel and H.H. Goebel), Pergamon, Oxford, pp.29–58.

    Google Scholar 

  • McLaughlin, M.E., Sandberg, M.A., Berson, E.L. and Dryja, T.P. (1993) Recessive mutations in the gene encoding the beta subunit or rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet. ,4, 130–4.

    Article  PubMed  CAS  Google Scholar 

  • Merin, S. and Auerbach, E. (1976) Retinitis pigmentosa. Survey of Ophthalmology ,20, 303–46.

    Article  PubMed  CAS  Google Scholar 

  • Molday, S., Hicks, D. and Molday, L. (1987) Peripherin: a rim-specific protein of rod outer segment discs. Investigative Ophthalmology and Visual Science ,78, 50–61.

    Google Scholar 

  • Naash, M.I., Tong, C., Goto, Y. et al. (1994) Studies on the mechanisms of the photoreceptor cell degeneration in a transgenic mouse model for human adRP. Investigative Ophthalmology and Visual Science ,Suppl. 35, 1834.

    Google Scholar 

  • Newsome, D.A. and Fishman, G.A. (1986) Research update. Report on retinitis pigmentosa and the immune system workshop 7–8 November 1985, Experimental Eye Research ,43, 1.

    Article  PubMed  CAS  Google Scholar 

  • Pagon, R. (1988) Retinitis pigmentosa. Survey of Ophthalmology ,33, 137–77.

    Article  PubMed  CAS  Google Scholar 

  • Peachey, N.S., Goto, Y., Al-Ubaidi, M.R., and Naash, M.I. (1994) Rod and cone dysfunction in a transgenic, mouse model of human adRP. Investigative Ophthalmology and Visual Science Suppl ,35, 2044.

    Google Scholar 

  • Riess, O., Noeremoelle, A., Collins, C. et al. (1992) Exclusion of DNA changes in the beta-subunit of the cGMP phosphodiesterase gene as the cause for Huntington’s disease. Nature Genet. ,1, 104–8.

    Article  PubMed  CAS  Google Scholar 

  • Roof, D.J., Adamian, M. and Hayes, A. (1994) Analysis of gene function by the use of transgenic animals. Investigative Ophthalmology and Visual Science Suppl. ,35, 1480.

    Google Scholar 

  • Rosenfeld, P.J., Cowley, G.S., McGee, T.L., et al.(1992) A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet. ,1, 209–13.

    Article  PubMed  CAS  Google Scholar 

  • Sandberg, M.A., Pawlyk, B.S, Franson, W.K. et al. (1993) Effect of light on the rate of ERG decline in transgenic mice with the human rhodopsin mutation pro2shis Investigative Ophthalmology and Visual Science Suppl. ,34, 1078.

    Google Scholar 

  • Sandberg, M.A., Weigel-Di Franco, C., Dryja, T.P. and Berson, E.L. (1994) ERG amplitude and visual field area correlate with categories rhodopsin mutations causing dominant retinitis pigmentosa. Investigative Ophthalmology and Visual Science Suppl. ,35, 1478.

    Google Scholar 

  • Schaeffel, F. and Howland, C.(1991) Properties of visual feedback loops controlling eye growth and refraction state in chickens. Vision Research ,31, 717–734.

    Article  PubMed  CAS  Google Scholar 

  • Sheedlo, H.J., Li, L., Barnstable, C.J, and Turner, J.E. (1993) Synaptic and photoreceptor components in retinal pigment epithelial cell transplanted retinas of the Royal College of Surgeons dystrophic rats. Journal of Neuro-science Research, 36, 424–31.

    Google Scholar 

  • Suber, M.L., Pittler, S.J., Qin, N. et al. (1993) Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proceedings of the National Academy of Sciences USA ,90, 3968–72.

    Article  CAS  Google Scholar 

  • Sung, C.H., Schneider, B.G., Agarwal, N. et al. (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences USA ,88, 8840–4.

    Article  CAS  Google Scholar 

  • Thirkill, C.E., Roth, A.M., Takemoto, D.J. et al. (1991) Antibody indications of secondary and superimposed retinal hypersensitivity in retinitis pigmentosa. American Journal of Ophthalmology ,112, 132–7.

    PubMed  CAS  Google Scholar 

  • Travis, G.H., Brennan, M.B, Danielson, P.E. et al. (1989) Indentification of a photoreceptorspecific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature ,388, 70–3.

    Article  Google Scholar 

  • van den Hurk, J.A., van de Pol, T.J., Molloy, C.M. et al. (1992) Detection and characterization of point mutations in the chorioderemia candidate gene by PCR-SSCP analysis and direct DNA sequencing. American Journal of Human Genetics 50, 1195–202.

    PubMed  Google Scholar 

  • Voaden, M.J. (1988) Retinitis pigmentosa and its models. Progress in Retinal Research ,7, 293–331.

    Article  Google Scholar 

  • Weleber, R.G., Carr, R.E., Murphey, W.H. et al. (1993) Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 and 154 of the peripherine/RDS gene. Archives of Opthalmology ,111, 1531–42.

    Article  CAS  Google Scholar 

  • Wiedemann, P. (1992) Growth factors in retinal diseases: proliferative a vitreoretinopathy, proliferative diabetic retinopathy, and retinal degeneration. Survey of Ophthalmology ,36, 373–84.

    Article  PubMed  CAS  Google Scholar 

  • Zrenner, E. (1991) Differential diagnosis of ‘Flecked retina’ disease, in La Retinite Pigmentosa Movimenti Oculari e Ambliopia Valutazione del Danno e Monitoraggio nel Glaucoma Fondamenti per le Indagini di Base (eds M. Cordelia, G. Baratta and C. Macaluso), Casa Editrice Mattioli, Parma.

    Google Scholar 

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Authors
  1. Eberhart Zrenner
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  2. Eckart Apfelstedt-Sylla
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  3. Klaus Rüther
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Editor information

Editors and Affiliations

  1. Department of Biology, Imperial College of Science, Technology and Medicine, London, UK

    M. B. A. Djamgoz (Professor of Neurobiology) (Professor of Neurobiology)

  2. International Marine Centre, Oristano, Italy

    S. N. Archer (Senior Research Fellow) (Senior Research Fellow)

  3. Institute of Cybernetics and Biophysics, Italian National Research Council, Genoa, Italy

    S. Vallerga (Senior Researcher) (Senior Researcher)

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© 1995 Springer Science+Business Media Dordrecht

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Zrenner, E., Apfelstedt-Sylla, E., Rüther, K. (1995). Clinical aspects: retinitis pigmentosa. In: Djamgoz, M.B.A., Archer, S.N., Vallerga, S. (eds) Neurobiology and Clinical Aspects of the Outer Retina. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-0533-0_18

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  • DOI: https://doi.org/10.1007/978-94-011-0533-0_18

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-4237-6

  • Online ISBN: 978-94-011-0533-0

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