Retinal Degenerations: Planning for the Future

  • Eliot L. Berson
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 613)

Retinal degenerations are a leading cause of blindness in many parts of the world (Bunker et al., 1984; Grondahl, 1987; Berson, 1993; Klein et al., 1995; Attebo et al., 1996; Klaver et al., 1998; Novak-Laus et al., 2002). In the United States an estimated 6 million people have age-related macular degeneration with a decrease in central vision after age 60. About 100,000 people have retinitis pigmentosa or a related disease with loss of side and night vision in adolescence; they often develop tunnel vision by age 40 and lose central vision by age 60.


Retinitis Pigmentosa Retinal Degeneration Usher Syndrome Stargardt Disease Gyrate Atrophy 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Acland, G.M., Aguirre, G.D., Bennett, J., Aleman, T.S., Cideciyan, A.V., Bennicelli, J., Dejneka, N.S., Pearce-Kelling, S.E., Maguire, A.M., Palczewski, K., Hauswirth, W.W., Jacobson, S.G., 2005, Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer in the retina in a canine model of childhood blindness. Mol. Ther. 12, 1072–1082.PubMedCrossRefGoogle Scholar
  2. Age-Related Eye Disease Study Research Group, 2001, A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta-carotene, and zinc for age-related macular degeneration and vision loss: AREDS Report No. 8. Arch. Ophthalmol. 119, 1417–1436.Google Scholar
  3. Allikmets, R., Singh, N., Sun, H., Shroyer, N.F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., Rattner, A., Smallwood, P., Li, Y., Anderson, K.L., Lewis, R.A., Nathans, J., Leppert, M., Dean, M., Lupski, J.R., 1997, A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet. 15, 236–246.PubMedCrossRefGoogle Scholar
  4. Attebo, K., Mitchell, P., Smith, S., 1996, Visual acuity and the causes of visual loss in Australia: the Blue Mountains Eye Study. Ophthalmology 103, 357–364.PubMedGoogle Scholar
  5. Berson, E.L. Retinitis pigmentosa. The Friedenwald Lecture., 1993, Invest. Ophthalmol. Vis. Sci. 34, 1659–1676.PubMedGoogle Scholar
  6. Berson. E.L., 1998, Treatment of retinitis pigmentosa with vitamin A. Proceedings of the Fernström Symposium on Tapetoretinal Degenerations, Lund, Sweden. Digital J. Ophthalmol. 4(2), (
  7. Berson, E.L., Rosner, B., Sandberg, M.A., Hayes, K.C., Nicholson, B.W., Weigel-DiFranco, C., Willett, W., 1993a, A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch. Ophthalmol. 111, 761–772.Google Scholar
  8. Berson, E.L., Rosner, B., Sandberg, M.A., Hayes, K.C., Nicholson, B.W., Weigel-DiFranco, C., Willett, W., 1993b, Vitamin A supplementation for retinitis pigmentosa. Arch. Ophthalmol. 111, 1456–1459.Google Scholar
  9. Berson, E.L., Rosner, B., Sandberg, M.A., Weigel-DiFranco, C., Moser, A., Brockhurst, R.J., Hayes, K.C., Johnson, C.A., Anderson, E.J., Gaudio, A.R., Willett, W.C., Schaefer. E.J., 2004a, Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Arch. Ophthalmol. 122, 1297–1305.Google Scholar
  10. Berson, E.L., Rosner, B., Sandberg, M.A., Weigel-DiFranco, C., Moser, A., Brockhurst, R.J., Hayes, K.C., Johnson, C.A., Anderson, E.J., Gaudio, A.R., Willett, W.C., Schaefer, E.J., 2004b, Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: Subgroup analyses. Arch. Ophthalmol. 122, 1306–1314.Google Scholar
  11. Berson, E.L., Sandberg, M.A., Rosner, B., Birch, D.G., Hanson, A.H., 1985, Natural course of retinitis pigmentosa over a three-year interval. Am. J. Ophthalmol. 99, 240–251.PubMedGoogle Scholar
  12. Bishara, S., Merin, S., Cooper, M., 1982, Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinemia. Br. J. Ophthalmol. 66, 767–770.PubMedCrossRefGoogle Scholar
  13. Briggs, C.E., Rucinski, D., Rosenfeld, P.J., Hirose, T., Berson, E.L., Dryja, T.P., 2001, Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest. Ophthalmol. Vis. Sci. 43 (10), 2229–2236.Google Scholar
  14. Bunker, C.H., Berson, E.L., Bromley, W.C., Hayes, R.P., Roderick, T.H., 1984, Prevalence of retinitis pigmentosa in Maine. Am. J. Ophthalmol. 97, 357–365.PubMedGoogle Scholar
  15. Chowers, I., Banin, E., Merin, S., Cooper, M., Granot, E., 2001, Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinemia and hypobetalipoproteinaemia patients. Eye 15, 525–630.PubMedGoogle Scholar
  16. Edwards, A.O., Ritter, R., Abel, K.J., Manning, A., Panhuysen, C., Farrer, L.A., 2005, Complement factor H polymorphism and age-related macular degeneration. Science 308, 421–424.PubMedCrossRefGoogle Scholar
  17. Farjo, R., Skaggs, J., Quiambao, A.B., Cooper, M.J., Naash, M.I., 2006, Efficient non-viral ocular gene transfer with compacted DNA nanoparticles. PLoS One, Dec 20, 1:e38.Google Scholar
  18. Feskanich, D., Singh, V., Willett, W.C., Colditz, G.A., 2002, Vitamin A intake and hip fractures among postmenopausal women. JAMA 287, 47–54.PubMedCrossRefGoogle Scholar
  19. Gouras, P., Carr, R.E., Gunkel, R.D., 1971, Retinitis pigmentosa in abetalipoproteinemia: Effects of vitamin A. Invest. Ophthalmol. Vis. Sci. 10, 784–793.Google Scholar
  20. Grondahl, J., 1987, Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin. Genet. 31, 255–264.PubMedGoogle Scholar
  21. Haines, J.L., Hauser, M.A., Schmidt, S., Scott, W.K., Olson, L.M., Gallins, P., Spencer, K.L., Kwan, S.Y., Noureddine, M., Gilbert, J.R., Schnetz-Boutaud, N., Agarwal, A., Postel, E.A., Pericak-Vance, M.A., 2005, Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419–421.Google Scholar
  22. Hartong, D.T., Berson, E.L., Dryja, T.P., 2006, Retinitis pigmentosa. Lancet, Seminar Series 368, 1795–1809.PubMedCrossRefGoogle Scholar
  23. Hungerbuhler, J.P., Meier, C., Rousselle, L., Quadri, P., Bogousslavsky, J., 1985, Refsum’s disease: management by diet and plasmapheresis. Eur. Neurol. 41, 826–832.Google Scholar
  24. Kaiser-Kupfer, M.I., Caruso, R.C., Valle, D., 1991, Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration. Arch. Ophthalmol. 109, 1539–1548.PubMedGoogle Scholar
  25. Klaver, C.C., Wolfs, R.C., Vingerling, J.R., Hofman, A., deJong P.T., 1998, Age-specific prevalence and causes of blindness and visual impairment in an older population: the Rotterdam Study. Arch. Ophthalmol. 116, 653–658.PubMedGoogle Scholar
  26. Klein, R., Wang, Q., Klein, B.E.K., Moss, S.E., Meuer, S.M., 1995, The relationship of age-related maculopathy, cataract, and glaucoma to visual acuity. Invest. Ophthalmol. Vis. Sci. 36, 183–191.Google Scholar
  27. Klein, R.J., Zeiss, C., Chew, E.Y., Tsai, J.-Y., Sackler, R.S., Haynes, C., Henning, A.K., SanGiovanni, J.P., Mane, S.M., Mayne, S.T., Bracken, M.B., Ferris, F.L., Ott, J., Barnstable, C., Hoh, J., 2005, Complement factor H polymorphism in age-related macular degeneration. Science 308, 385–389.PubMedCrossRefGoogle Scholar
  28. Li, T., Sandberg, M.A., Pawlyk, B.S., Rosner, B., Hayes, K.C., Dryja, T.P., Berson, E.L., 1998, Effect of vitamin A supplementation on rhodopsin mutants threonine-17-methionine and proline-347-serine in transgenic mice and in cell cultures. Proc. Natl. Acad. Sci. U.S.A. 95, 11933–11938.PubMedCrossRefGoogle Scholar
  29. Macular Photocoagulation Study Group, 1993, Laser photocoagulation for subfoveal lesions of age-related macular degeneration: updated findings from two clinical trials. Arch. Ophthalmol. 111, 1200–1209.Google Scholar
  30. Marquardt, A., Stohr, H., Passmore, L.A., Kramer, F., Rivera, A., Weber, B.H., 1998, Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitellifrom macular dystrophy (Best’s disease). Hum. Mol. Genet. 7 (9), 1517–1525.PubMedCrossRefGoogle Scholar
  31. Mata, N.L., Radu, R.A., Clemmons, R.C., Travis, G.H., 2002, Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight. Neuron 36 (1), 69–80.PubMedCrossRefGoogle Scholar
  32. Michaelsson, K., Lithell, H., Vessby, B., Melhus, H., 2003, Serum retinol levels and the risk of fracture. N. Engl. J. Med. 348, 287–294.PubMedCrossRefGoogle Scholar
  33. Novak-Laus, K., Suzana-Kukulj, S., Zoric-Geber, M., Bastaic, O., 2002, Primary tapetoretinal dystrophies as the cause of blindness and impaired vision in the republic of Croatia. Acta Clin. Croat. 41, 23–27.Google Scholar
  34. Osterberg, G., 1935, Topography of the layer of rods and cones in the human retina. Acta Ophthalmol. 6(Suppl), 1.Google Scholar
  35. Pawlyk, B., Smith, A.J., Buch, P.K., Adamian, M., Hong, D., Ali, R.R., Sandberg, M.A., Li, T., 2005, Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Invest. Ophthalmol. Vis. Sci. 46, 3039–3045.PubMedCrossRefGoogle Scholar
  36. Ramesh, V., Gusella, J.F., Shih, V.E., 1991, Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. Mol. Biol. Med. 8 (1), 81–93.PubMedGoogle Scholar
  37. Refsum, S., 1981, Heredopathia atactica poly neuritiformis, phytanic acid storage disease. Refsum’s disease: A biochemically well-defined disease with a specific dietary treatment. Arch. Neurol. 38, 605–606.PubMedGoogle Scholar
  38. Rosenfeld, P.J., 2006, Intravitreal Avastin: the low cost alternative to Lucentis? Am. J. Ophthalmol. 142(1), 141–143.PubMedCrossRefGoogle Scholar
  39. Rosenfeld, P.J., Brown, D.M., Heier, J.S., Boyer, D.S., Kaiser, P.K., Chung, C.Y., Kim, R.Y., 2006, MARINA Study Group. Ranibizumab for neovascular age-related macular degeneration. N. Engl. J. Med. 355 (14), 1419–1431.PubMedCrossRefGoogle Scholar
  40. Shang, Y., Meister, M., Pawlyk, B.S., Bulgakov, O.V., Li, T., Sandberg, M.A., 2007, Responses of intrinsically-photosensitive retinal ganglion cells after melanopsin-gene transfection. ARVO abstract.Google Scholar
  41. Sibulesky, L., Hayes, K.C., Pronczuk, A., Weigel-DiFranco, C., Rosner, B., Berson, E.L., 1999, Safety of less than 7,500 RE/day (25,000 IU/day) of vitamin A in adults with retinitis pigmentosa. Amer. J. Clin. Nutr. 69, 656–663.PubMedGoogle Scholar
  42. Sieving, P.A., Caruso, R.C., Tao, W., Coleman, H.R., Thompson, D.J., Fullmer, K.R., Bush, R.A., 2006, Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants. Proc. Natl. Acad. Sci. U.S.A. 103, 3896–3901.PubMedCrossRefGoogle Scholar
  43. Wolf, G., 1998, Transport of retinoids by the interphotoreceptor retinoid-binding protein. Nutr. Rev. 56, 156–158.PubMedCrossRefGoogle Scholar
  44. Yokota, T., Shiojiri, T., Gotoda, T., Arita, M., Arai, H., Ohga, T., Kanda, T., Suzuki, J., Imai, T., Matsumoto, S., Harino, H., Kiyosawa, M., Mizusawa, H., 1997, Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene. Ann. Neurol. 41, 826–832.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  1. 1.Berman-Gund Laboratory for the Study of Retinal DegenerationsHarvard Medical School, Massachusetts Eye and Ear InfirmaryMassachusetts 02114USA

Personalised recommendations