Retinite pigmentosa


Principais artigos

Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. Resumo

Pruett RC. Retinitis pigmentosa: clinical observations and correlations. Trans Am Ophthalmol Soc. 1983;81:693-735.Texto completo  Resumo

Artigos de referência

1. Heckenlively JR. Retinitis pigmentosa. Philadelphia, PA: Lippincott; 1988.

2. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. Resumo

3. Pruett RC. Retinitis pigmentosa: clinical observations and correlations. Trans Am Ophthalmol Soc. 1983;81:693-735.Texto completo  Resumo

4. Fishman GA, Farber MD, Derlacki DJ. X-linked retinitis pigmentosa: profile of clinical findings. Arch Ophthalmol. 1988 Mar;106(3):369-75. Resumo

5. den Hollander AI, Roepman R, Koenekoop RK, et al. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. Resumo

6. Bunker CH, Berson EL, Bromley WC, et al. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984 Mar;97(3):357-65. Resumo

7. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl. 2002;(233):1-34. Resumo

8. Bundey S, Crews SJ. A study of retinitis pigmentosa in the City of Birmingham: I Prevalence. J Med Genet. 1984 Dec;21(6):417-20.Texto completo  Resumo

9. Vinchurkar MS, Sathye SM, Dikshit M. Retinitis pigmentosa genetics: a study in Indian population. Indian J Ophthalmol. 1996 Jun;44(2):77-82. Resumo

10. Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet. 1987 Oct;24(10):584-8.Texto completo  Resumo

11. Ayuso C, Garcia-Sandoval B, Najera C, et al. Retinitis pigmentosa in Spain: the Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. Clin Genet. 1995 Sep;48(3):120-2. Resumo

12. Ammann F, Klein D, Franceschetti A. Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland. J Neurol Sci. 1965 Mar-Apr;2(2):183-96. Resumo

13. Heckenlively J, Friederich R, Farson C, et al. Retinitis pigmentosa in the Navajo. Metab Pediatr Ophthalmol. 1981;5(3-4):201-6. Resumo

14. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982 Jul;66(7):405-16.Texto completo  Resumo

15. Koenig R. Bardet-Biedl syndrome and Usher syndrome. Dev Ophthalmol. 2003;37:126-40. Resumo

16. Li ZY, Possin DE, Milam AH. Histopathology of bone spicule pigmentation in retinitis pigmentosa. Ophthalmology. 1995 May;102(5):805-16. Resumo

17. Berson EL, Gouras P, Gunkel RD, et al. Dominant retinitis pigmentosa with reduced penetrance. Arch Ophthalmol. 1969 Feb;81(2):226-34. Resumo

18. McCulloch DL, Marmor MF, Brigell MG, et al. ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol. 2015 Feb;130(1):1-12.Texto completo  Resumo

19. American Academy of Ophthalmology. Recommendations for genetic testing of inherited eye diseases. February 2014 [internet publication].Texto completo

20. Berson EL, Rosner B, Sandberg MA, et al. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol. 1993 Jun;111(6):761-72. Resumo

21. Radu RA, Hu J, Peng J, et al. Retinal pigment epithelium-retinal G protein receptor-opsin mediates light-dependent translocation of all-trans-retinyl esters for synthesis of visual chromophore in retinal pigment epithelial cells. J Biol Chem. 008 Jul 11;283(28):19730-8.Texto completo  Resumo

22. Schütt F, Davies S, Kopitz J, et al. Photodamage to human RPE cells by A2-E, a retinoid component of lipofuscin. Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2303-8.Texto completo  Resumo

23. Sibulesky L, Hayes KC, Pronczuk A, et al. Safety of <7500 RE (<25000 IU) vitamin A daily in adults with retinitis pigmentosa. Am J Clin Nutr. 1999 Apr;69(4):656-63.Texto completo  Resumo

24. Rotenstreich Y, Belkin M, Sadetzki S, et al. Treatment with 9-cis β-carotene-rich powder in patients with retinitis pigmentosa: a randomized crossover trial. JAMA Ophthalmol. 2013 Aug;131(8):985-92. Resumo

25. Pennesi ME. A little algae a day keeps the retinal degeneration specialist away? JAMA Ophthalmol. 2013 Aug;131(8):983-4. Resumo

26. Berson EL, Rosner B, Sandberg MA, et al. Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Arch Ophthalmol. 2004 Sep;122(9):1297-305. Resumo

27. Hoffman DR, Locke KG, Wheaton DH, et al. A randomized, placebo-controlled clinical trial of docosahexaenoic acid supplementation for X-linked retinitis pigmentosa. Am J Ophthalmol. 2004 Apr;137(4):704-18. Resumo

28. Hoffman DR, Hughbanks-Wheaton DK, Pearson NS, et al. Four-year placebo-controlled trial of docosahexaenoic acid in X-linked retinitis pigmentosa (DHAX trial): a randomized clinical trial. JAMA Ophthalmol. 2014 Jul;132(7):866-73. Resumo

29. Hughbanks-Wheaton DK, Birch DG, Fish GE, et al. Safety assessment of docosahexaenoic acid in X-linked retinitis pigmentosa: the 4-year DHAX trial. Invest Ophthalmol Vis Sci. 2014 Jul 11;55(8):4958-66. Resumo

30. Berson EL, Rosner B, Sandberg MA, et al. Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A. Arch Ophthalmol. 2010 Apr;128(4):403-11. Resumo

31. Massof RW, Fishman GA. How strong is the evidence that nutritional supplements slow the progression of retinitis pigmentosa? Arch Ophthalmol. 2010 Apr;128(4):493-5. Resumo

32. Grover S, Apushkin MA, Fishman GA. Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. Am J Ophthalmol. 2006 May;141(5):850-8. Resumo

33. Fishman GA, Gilbert LD, Fiscella RG, et al. Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Arch Ophthalmol. 1989 Oct;107(10):1445-52. Resumo

34. Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008 May 22;358(21):2240-8.Texto completo  Resumo

35. Bainbridge JW, Smith AJ, Barker SS, et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med. 2008 May 22;358(21):2231-9.Texto completo  Resumo

36. Hauswirth WW, Aleman TS, Kaushal S, et al. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther. 2008 Oct;19(10):979-90. Resumo

37. Bainbridge JW, Mehat MS, Sundaram V, et al. Long-term effect of gene therapy on Leber's congenital amaurosis. N Engl J Med. 2015 May 14;372(20):1887-97.Texto completo  Resumo

38. Jacobson SG, Cideciyan AV, Roman AJ, et al. Improvement and decline in vision with gene therapy in childhood blindness. N Engl J Med. 2015 May 14;372(20):1920-6.Texto completo  Resumo

39. Bennett J, Wellman J, Marshall KA, et al. Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial. Lancet. 2016 Aug 13;388(10045):661-72.Texto completo  Resumo

40. Russell S, Bennett J, Wellman JA, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet. 2017 Aug 26;390(10097):849-60.Texto completo  Resumo

41. Maguire AM, Russell S, Wellman JA, et al. Efficacy, safety, and durability of voretigene neparvovec-rzyl in RPE65 mutation-associated inherited retinal dystrophy: results of phase 1 and 3 trials. Ophthalmology. 2019 Sep;126(9):1273-85. Resumo

42. Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations. National Institute for Health and Care Excellence. October 2019 [internet publication].Texto completo

43. Fishman GA. A historical perspective on the early treatment of night blindness and the use of dubious and unproven treatment strategies for patients with retinitis pigmentosa. Surv Ophthalmol. 2013 Nov-Dec;58(6):652-63. Resumo

44. Zhang K, Hopkins JJ, Heier JS, et al. Ciliary neurotrophic factor delivered by encapsulated cell intraocular implants for treatment of geographic atrophy in age-related macular degeneration. Proc Natl Acad Sci U S A. 2011 Apr 12;108(15):6241-5.Texto completo  Resumo

45. Bush RA, Lei B, Tao W, et al. Encapsulated cell-based intraocular delivery of ciliary neurotrophic factor in normal rabbit: dose-dependent effects on ERG and retinal histology. Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2420-30.Texto completo  Resumo

46. Birch DG, Weleber RG, Duncan JL, et al. Randomized trial of ciliary neurotrophic factor delivered by encapsulated cell intraocular implants for retinitis pigmentosa. Am J Ophthalmol. 22013 Aug;156(2):283-92Texto completo  Resumo

47. Nakazawa M, Ohguro H, Takeuchi K, et al. Effect of nilvadipine on central visual field in retinitis pigmentosa: a 30-month clinical trial. Ophthalmologica. 2011;225(2):120-6. Resumo

48. Akiyama M, Ikeda Y, Yoshida N, et al. Therapeutic efficacy of topical unoprostone isopropyl in retinitis pigmentosa. Acta Ophthalmol. 2014 May;92(3):e229-34. Resumo

49. da Cruz L, Chen FK, Ahmado A, et al. RPE transplantation and its role in retinal disease. Prog Retin Eye Res. 2007 Nov;26(6):598-635. Resumo

50. Siqueira RC, Messias A, Voltarelli JC, et al. Intravitreal injection of autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy: a phase I trial. Retina. 2011 Jun;31(6):1207-14. Resumo

51. Tucker BA, Mullins RF, Stone EM. Stem cells for investigation and treatment of inherited retinal disease. Hum Mol Genet. 2014 Sep 15;23(R1):R9-R16.Texto completo  Resumo

52. Chow AY, Chow VY, Packo KH, et al. The artificial silicon retina microchip for the treatment of vision loss from retinitis pigmentosa. Arch Ophthalmol. 2004 Apr;122(4):460-9. Resumo

53. Loewenstein JI, Montezuma SR, Rizzo JF 3rd. Outer retinal degeneration: an electronic retinal prosthesis as a treatment strategy. Arch Ophthalmol. 2004 Apr;122(4):587-96. Resumo

54. Humayun MS, Weiland JD, Fujii GY, et al. Visual perception in a blind subject with a chronic microelectronic retinal prosthesis. Vision Res. 2003 Nov;43(24):2573-81. Resumo

55. Rizzo S, Belting C, Cinelli L, et al. The Argus II retinal prosthesis: 12-month outcomes from a single-study center. Am J Ophthalmol. 2014 Jun;157(6):1282-90. Resumo

56. Grover S, Fishman GA, Anderson RJ, et al. Rate of visual field loss in retinitis pigmentosa. Ophthalmology. 1997 Mar;104(3):460-5. Resumo

57. Grover S, Fishman GA, Anderson RJ, et al. Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older. Ophthalmology. 1999 Sep;106(9):1780-5. Resumo

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