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Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368:1795-1809.

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

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1.  Weleber RG, Gregory-Evans K. Retinitis pigmentosa and allied disorders. In: Ryan SJ, ed. Retina, 4th ed. Philadelphia, PA: Elsevier Mosby; 2006:395-498.

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

3.  Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368:1795-1809.

• 摘要

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

• 全文
• 摘要

5.  Fishman GA, Farber MD, Derlacki DJ. X-linked retinitis pigmentosa: profile of clinical findings. Arch Ophthalmol. 1988;106:369-375.

• 摘要

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

• 摘要

7.  Bunker CH, Berson EL, Bromley WC, et al. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984;97:357-365.

• 摘要

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

• 摘要

9.  Bundey S, Crews SJ. A study of retinitis pigmentosa in the City of Birmingham: I Prevalence. J Med Genet. 1984;21:417-420.

• 全文
• 摘要

10.  Vinchurkar MS, Sathye SM, Dikshit M. Retinitis pigmentosa genetics: a study in Indian population. Indian J Ophthalmol. 1996;44:77-82.

• 摘要

11.  Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet. 1987;24:584-588.

• 全文
• 摘要

12.  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;48:120-122.

• 摘要

13.  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;2:183-196.

• 摘要

14.  Heckenlively J, Friederich R, Farson C, et al. Retinitis pigmentosa in the Navajo. Metab Pediatr Ophthalmol. 1981;5:201-206.

• 摘要

15.  Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982;66:405-416.

• 全文
• 摘要

16.  Koenig R. Bardet-Biedl syndrome and Usher syndrome. Dev Ophthalmol. 2003;37:126-140.

• 摘要

17.  Li ZY, Possin DE, Milam AH. Histopathology of bone spicule pigmentation in retinitis pigmentosa. Ophthalmology. 1995;102:805-816.

• 摘要

18.  Berson EL, Gouras P, Gunkel RD, et al. Dominant retinitis pigmentosa with reduced penetrance. Arch Ophthalmol. 1969;81:226-234.

• 摘要

19.  Marmor MF, Brigell MG, McCulloch DL, et al; International Society for Clinical Electrophysiology of Vision. ISCEV standard for clinical electro-oculography (2010 update). Doc Ophthalmol. 2011;122:1-7.

• 摘要

20.  American Academy of Ophthalmology. Recommendations for genetic testing of inherited eye diseases. February 2014. http://www.aao.org/ (last accessed 13 October 2016).

• 全文

21.  Berson EL, Rosner B, Sandberg MA, et al. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol. 1993;111:761-772.

• 摘要

22.  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. 2008;283:19730-19738.

• 全文
• 摘要

23.  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;41:2303-2308.

• 全文
• 摘要

24.  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;69:656-663.

• 全文
• 摘要

25.  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;131:985-992.

• 摘要

26.  Pennesi ME. A little algae a day keeps the retinal degeneration specialist away? JAMA Ophthalmol. 2013;131:983-984.

• 摘要

27.  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;122:1297-1305.

• 摘要

28.  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;137:704-718.

• 摘要

29.  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;132:866-873.

• 摘要

30.  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;55:4958-4966.

• 摘要

31.  Berson EL, Rosner B, Sandberg MA, et al. Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A. Arch Ophthalmol. 2010;128:403-411.

• 摘要

32.  Massof RW, Fishman GA. How strong is the evidence that nutritional supplements slow the progression of retinitis pigmentosa? Arch Ophthalmol. 2010;128:493-495.

• 摘要

33.  Grover S, Apushkin MA, Fishman GA. Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. Am J Ophthalmol. 2006;141:850-858.

• 摘要

34.  Fishman GA, Gilbert LD, Fiscella RG, et al. Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Arch Ophthalmol. 1989;107:1445-1452.

• 摘要

35.  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;58:652-663.

• 摘要

36.  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;108:6241-6245.

• 全文
• 摘要

37.  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;45:2420-2430.

• 全文
• 摘要

38.  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. 2013;156:283-292.

• 全文
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39.  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;225:120-126.

• 摘要

40.  Akiyama M, Ikeda Y, Yoshida N, et al. Therapeutic efficacy of topical unoprostone isopropyl in retinitis pigmentosa. Acta Ophthalmol. 2014;92:e229-e234.

• 摘要

41.  Clemson CM, Tzekov R, Krebs M, et al. Therapeutic potential of valproic acid for retinitis pigmentosa. Br J Ophthalmol. 2011;95:89-93.

• 摘要

42.  Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008;358:2240-2248.

• 全文
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43.  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;358:2231-2239.

• 全文
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44.  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;19:979-990.

• 摘要

45.  Bainbridge JW, Mehat MS, Sundaram V, et al. Long-term effect of gene therapy on Leber's congenital amaurosis. N Engl J Med. 2015;372:1887-1897.

• 全文
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46.  Jacobson SG, Cideciyan AV, Roman AJ, et al. Improvement and decline in vision with gene therapy in childhood blindness. N Engl J Med. 2015;372:1920-1926.

• 全文
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47.  da Cruz L, Chen FK, Ahmado A, et al. RPE transplantation and its role in retinal disease. Prog Retin Eye Res. 2007;26:598-635.

• 摘要

48.  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;31:1207-1214.

• 摘要

49.  Tucker BA, Mullins RF, Stone EM. Stem cells for investigation and treatment of inherited retinal disease. Hum Mol Genet. 2014;23:R9-R16.

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50.  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;122:460-469.

• 摘要

51.  Loewenstein JI, Montezuma SR, Rizzo JF 3rd. Outer retinal degeneration: an electronic retinal prosthesis as a treatment strategy. Arch Ophthalmol. 2004;122:587-596.

• 摘要

52.  Humayun MS, Weiland JD, Fujii GY, et al. Visual perception in a blind subject with a chronic microelectronic retinal prosthesis. Vision Res. 2003;43:2573-2581.

• 摘要

53.  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;157:1282-1290.

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54.  Grover S, Fishman GA, Anderson RJ, et al. Rate of visual field loss in retinitis pigmentosa. Ophthalmology. 1997;104:460-465.

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55.  Grover S, Fishman GA, Anderson RJ, et al. Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older. Ophthalmology. 1999;106:1780-1785.

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