Highlights & Basics
- Primary symptoms of retinitis pigmentosa include impaired night vision, problems with dark adaptation, decreased peripheral vision, and eventually decreased visual acuity.
- Electroretinograms help confirm the diagnosis by demonstrating attenuated rod and cone signals.
- Onset and pattern of degeneration vary but most cases demonstrate atrophy of the retina and retinal pigment epithelium, bone spicule pigmentation, waxy pallor of the optic nerve, and retinal vascular attenuation.
- There is no cure. Vitamin A supplementation and docosahexaenoic acid (fish oils) are given in some centers with the aim of slowing retinal degeneration. Gene replacement therapy has demonstrated improved functional vision in patients with RPE65-mediated inherited retinal dystrophy.
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Citations
American Academy of Ophthalmology. Comprehensive adult medical eye evaluation PPP. Nov 2020 [internet publication].[Full Text]
American Academy of Ophthalmology. Guidelines on clinical assessment of patients with inherited retinal degenerations - 2022. Oct 2022 [internet publication].[Full Text]
Robson AG, Frishman LJ, Grigg J, et al. ISCEV Standard for full-field clinical electroretinography (2022 update). Doc Ophthalmol. 2022 Jun;144(3):165-77.[Abstract][Full Text]
American Academy of Ophthalmology. Recommendations for genetic testing of inherited eye diseases. February 2014 [internet publication].[Full Text]
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22. American Academy of Ophthalmology. Comprehensive adult medical eye evaluation PPP. Nov 2020 [internet publication].[Full Text]
23. American Academy of Ophthalmology. Guidelines on clinical assessment of patients with inherited retinal degenerations - 2022. Oct 2022 [internet publication].[Full Text]
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25. American Academy of Ophthalmology. Recommendations for genetic testing of inherited eye diseases. February 2014 [internet publication].[Full Text]
26. US Preventive Services Task Force. Recommendation: impaired visual acuity in older adults: screening. May 2022 [internet publication].[Full Text]
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44. 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.[Abstract][Full Text]
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47. 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.[Abstract][Full Text]
48. 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.[Abstract][Full Text]
49. 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.[Abstract][Full Text]
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52. 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.[Abstract][Full Text]
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55. 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.[Abstract]
56. 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.[Abstract]
57. 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.[Abstract]
58. 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.[Abstract]
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