Retinitis Pigmentosa Differential Diagnoses

1. Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M. Update on Usher syndrome. Curr Opin Neurol. 2009 Feb. 22(1):19-27. [QxMD MEDLINE Link].

2. US Food and Drug Administration. FDA approves first retinal implant for adults with rare genetic eye disease [news release]. February 14, 2013. Available at http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm339824.htm. Accessed: February 27, 2013.

3. Cottet S, Schorderet DF. Mechanisms of apoptosis in retinitis pigmentosa. Curr Mol Med. 2009 Apr. 9(3):375-83. [QxMD MEDLINE Link].

4. 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. [QxMD MEDLINE Link].

5. Farrell DF. Unilateral retinitis pigmentosa and cone-rod dystrophy. Clin Ophthalmol. 2009. 3:263-70. [QxMD MEDLINE Link]. [Full Text].

6. Fahim AT, Bowne SJ, Sullivan LS, et al. Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations. PLoS One. 2011. 6(8):e23021. [QxMD MEDLINE Link].

7. Hebrard M, Manes G, Bocquet B, et al. Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families. Eur J Hum Genet. 2011 Dec. 19(12):1256-63. [QxMD MEDLINE Link].

8. Adackapara CA, Sunness JS, Dibernardo CW, Melia BM, Dagnelie G. Prevalence of cystoid macular edema and stability in oct retinal thickness in eyes with retinitis pigmentosa during a 48-week lutein trial. Retina. 2008 Jan. 28 (1):103-10. [QxMD MEDLINE Link].

9. Salvatore S, Fishman GA, Genead MA. Treatment of cystic macular lesions in hereditary retinal dystrophies. Surv Ophthalmol. 2013 Nov-Dec. 58 (6):560-84. [QxMD MEDLINE Link].

10. Fishman GA, Gilbert LD, Fiscella RG, Kimura AE, Jampol LM. Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Arch Ophthalmol. 1989 Oct. 107 (10):1445-52. [QxMD MEDLINE Link].

11. Genead MA, Fishman GA. Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with retinitis pigmentosa and usher syndrome. Arch Ophthalmol. 2010 Sep. 128 (9):1146-50. [QxMD MEDLINE Link].

12. Scorolli L, Morara M, Meduri A, Reggiani LB, Ferreri G, Scalinci SZ, et al. Treatment of cystoid macular edema in retinitis pigmentosa with intravitreal triamcinolone. Arch Ophthalmol. 2007 Jun. 125 (6):759-64. [QxMD MEDLINE Link].

13. Ahn SJ, Kim KE, Woo SJ, Park KH. The effect of an intravitreal dexamethasone implant for cystoid macular edema in retinitis pigmentosa: a case report and literature review. Ophthalmic Surg Lasers Imaging Retina. 2014 Mar-Apr. 45 (2):160-4. [QxMD MEDLINE Link].

14. Yuzbasioglu E, Artunay O, Rasier R, Sengul A, Bahcecioglu H. Intravitreal bevacizumab (Avastin) injection in retinitis pigmentosa. Curr Eye Res. 2009 Mar. 34 (3):231-7. [QxMD MEDLINE Link].

15. Birch DG, Bernstein PS, Iannacone A, et al. Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial. JAMA Ophthalmol. 2018 Aug 1. 136 (8):849-856. [QxMD MEDLINE Link].

16. Bastek JV, Heckenlively JR, Straatsma BR. Cataract surgery in retinitis pigmentosa patients. Ophthalmology. 1982 Aug. 89(8):880-4. [QxMD MEDLINE Link].

17. Birch DG, Weleber RG, Duncan JL, Jaffe GJ, Tao W, Ciliary Neurotrophic Factor Retinitis Pigmentosa Study Groups. Randomized trial of ciliary neurotrophic factor delivered by encapsulated cell intraocular implants for retinitis pigmentosa. Am J Ophthalmol. 2013 Aug. 156 (2):283-292.e1. [QxMD MEDLINE Link].

18. Singh MS, Park SS, Albini TA, Canto-Soler MV, Klassen H, MacLaren RE, et al. Retinal stem cell transplantation: Balancing safety and potential. Prog Retin Eye Res. 2020 Mar. 75:100779. [QxMD MEDLINE Link].

19. Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ. Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies. Lancet. 2014 Oct 15. [QxMD MEDLINE Link].

20. Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, et al. Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies. Lancet. 2015 Feb 7. 385 (9967):509-16. [QxMD MEDLINE Link].

21. Tsai D, Morley JW, Suaning GJ, Lovell NH. A wearable real-time image processor for a vision prosthesis. Comput Methods Programs Biomed. 2009 Sep. 95(3):258-69. [QxMD MEDLINE Link].

22. Chow AY, Pardue MT, Perlman JI, et al. Subretinal implantation of semiconductor-based photodiodes: durability of novel implant designs. J Rehabil Res Dev. 2002 May-Jun. 39(3):313-21. [QxMD MEDLINE Link].

23. Smith AJ, Bainbridge JW, Ali RR. Prospects for retinal gene replacement therapy. Trends Genet. 2009 Apr. 25(4):156-65. [QxMD MEDLINE Link].

24. Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, 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):849-860. [QxMD MEDLINE Link]. [Full Text].

25. Maguire AM, Russell S, Chung DC, Yu ZF, Tillman A, Drack AV, et al. Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 3 and 4 Years. Ophthalmology. 2021 Mar 30. [QxMD MEDLINE Link]. [Full Text].

26. Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, 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. [QxMD MEDLINE Link].

27. Berson EL, Rosner B, Sandberg MA, Weigel-Difranco C, Willett WC. Omega-3 Intake and Visual Acuity in Patients With Retinitis Pigmentosa Receiving Vitamin A. Arch Ophthalmol. 2012 Feb 13. [QxMD MEDLINE Link].

28. Fishman GA, Gilbert LD, Fiscella RG, Kimura AE, Jampol LM. Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Arch Ophthalmol. 1989 Oct. 107(10):1445-52. [QxMD MEDLINE Link].

David G Telander, MD, PhD Ophthalmologist, Vitreo-Retinal Diseases and Surgery, Retinal Consultants Medical Group; Volunteer Clinical Faculty, Department of Ophthalmology, University of California, Davis, School of Medicine

David G Telander, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Retina Specialists, Association for Research in Vision and Ophthalmology, Retina Society

Disclosure: Nothing to disclose.

Anthony de Beus, MD, PhD Consulting Staff, Southwest Eye Centers

Anthony de Beus, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

Kent W Small, MD, FASRS Director/President, Macula and Retina Institute; President, Molecular Insight Research Foundation; Consulting Surgeon, Glendale Eye Medical Group

Kent W Small, MD, FASRS is a member of the following medical societies: American Academy of Ophthalmology, American Association for Physician Leadership, American Association for the Advancement of Science, American Medical Association, American Medical Informatics Association, American Ophthalmological Society, American Society of Human Genetics, Association for Research in Vision and Ophthalmology, California Medical Association, Macula Society, Retina Society, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Steve Charles, MD Founder and CEO of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine

Disclosure: Received royalty and consulting fees for: Alcon Laboratories.

Donny W Suh, MD, MBA, FAAP, FACS Professor, Department of Ophthalmology, Chief of Pediatric Ophthalmology and Adult Strabismus, Medical Director of Eye-Mobile, Gavin Herbert Eye Institute, UC Irvine Health, University of California, Irvine, School of Medicine; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Chief Medical Officer, Suh Precision Syringe, LLC; Medical Staff, Children’s Hospital of Orange County

Donny W Suh, MD, MBA, FAAP, FACS is a member of the following medical societies: American Academy of Ophthalmology, American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, American College of Healthcare Executives, American College of Surgeons, American Medical Association, Section on Ophthalmology, American Ophthalmological Society, International Strabismological Association, Iowa Medical Society, Metro Omaha Medical Society, National Eye Care Project, Nebraska Chapter of American Academy of Pediatrics, ORBIS, Surgical Eye Expeditions (SEE) International

Disclosure: Nothing to disclose.

Russell P Jayne, MD Vitreoretinal Surgeon, The Retina Center at Las Vegas

Russell P Jayne, MD is a member of the following medical societies: American Medical Association, American Society of Cataract and Refractive Surgery, American Society of Retina Specialists

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article