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Retinitis Pigmentosa

  • Author: David G Telander, MD, PhD; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Feb 17, 2015
 

Practice Essentials

Retinitis pigmentosa (RP) is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss. See the image below.

Gross pathology of an eye in a man with retinitis Gross pathology of an eye in a man with retinitis pigmentosa.

Essential update: FDA approves first retinal implant for advanced adult RP

The US Food and Drug Administration (FDA) has approved the first retinal implant, the Argus II Retinal Prosthesis System, for adults aged 25 years or older with advanced RP.[1] Although this device will not restore vision to patients, it replaces the function of degenerated cells in the retina and may improve a patient’s performance of basic activities by improving their ability to perceive images and movement.[1]

The implant includes a small video camera, transmitter mounted on a pair of eyeglasses, video processing unit (VPU), and an implanted retinal prosthesis (artificial retina). The VPU transforms images from the video camera into electronic data that are wirelessly transmitted to the retinal prosthesis. About two thirds of patients had no adverse events related to the device or the procedure; however, over one third of patients had a total of 23 serious adverse events, including conjunctival erosion, dehiscence, retinal detachment, inflammation, and hypotony.[1]

Signs and symptoms

Presenting signs and symptoms of RP vary, but the classic ones include the following:

  • Nyctalopia (night blindness): Hallmark; most commonly the earliest symptom in RP
  • Visual loss, usually peripheral; in advanced cases, central visual loss
  • Photopsia (seeing flashes of light)

A careful family history with pedigree and possible examination of family members can be useful. In addition, a drug history is essential to rule out phenothiazine/thioridazine toxicity.

See Clinical Presentation for more detail.

Diagnosis

Because RP is a collection of many inherited diseases, significant variability exists in the physical findings. Ocular examination involves assessment of visual acuity and pupillary reaction, as well as anterior segment, retinal, and funduscopic evaluation.

Systemic examination for RP can be helpful to rule out syndromic RP, which are conditions that have pigmentary retinopathy and mimic RP, such as the following:

  • Syndromes associated with RP and hearing loss: Usher syndrome, [2] Waardenburg syndrome, Alport syndrome, Refsum disease
  • Kearns-Sayre syndrome: External ophthalmoplegia, lid ptosis, heart block, and pigmentary retinopathy
  • Abetalipoproteinemia: Fat malabsorption, fat-soluble vitamin deficiencies, spinocerebellar degeneration, and pigmentary retinal degeneration
  • Mucopolysaccharidoses (eg, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome): Can be affected with pigmentary retinopathy
  • Bardet-Biedl syndrome: Polydactyly, truncal obesity, kidney dysfunction, short stature, and pigmentary retinopathy
  • Neuronal ceroid lipofuscinosis: Dementia, seizures, and pigmentary retinopathy; infantile form is known as Jansky-Bielschowsky disease, juvenile form is Vogt-Spielmeyer-Batten disease, and adult form is Kufs syndrome

Testing

The following laboratory tests are useful in excluding masquerading diseases or in detecting conditions that are associated with RP:

  • Infectious studies for syphilis (VDRL, FTA-ABS), toxoplasmosis (when suspected; serum IgG)
  • Inherited/syndromic disease studies for Refsum disease (serum phytanic acid in the presence of other neurologic abnormalities), gyrate atrophy (ornithine levels), Kearns-Sayre syndrome (ECG to help rule out heart block), and abetalipoproteinemia (lipid profile with possible protein electrophoresis)
  • Neoplasm related studies for antiretinal antibodies (particularly antirecoverin antibodies), especially in cancer-associated retinopathy (CAR) or in severe RP

Other studies that may be helpful include the following:

  • Electroretinogram (ERG): Most critical diagnostic test for RP
  • Electro-oculogram (EOG): Not helpful in diagnosing RP, but central macular changes, normal ERG findings, and abnormal EOG findings suggest Best vitelliform macular dystrophy (Best disease)
  • Formal visual field testing: Most useful measure for ongoing follow-up care of patients with RP; Goldmann (kinetic) perimetry is recommended
  • Color testing: Commonly, mild blue-yellow axis color defects, although most patients with RP do not clinically complain of major difficulty with color perception
  • Dark adaptation study: Disproportionately reduced contrast sensitivity relative to visual acuity in RP; bright-light sensitivity
  • Genetic subtyping: Definitive test for diagnosis to identify the particular defect

Imaging tests

Fluorescein angiography is rarely useful in diagnosing RP; however, the presence of cystoid macular edema can be confirmed by this test. Likewise, although optical coherence tomography (OCT) is not useful in helping to establish a diagnosis of RP, this imaging study can be helpful to document the extent and/or presence of cystoid macular edema.

Procedures

Biopsy for histologic examination in patients with RP is not clinically helpful, owing to the general good health of these patients and the chronic nature of the disease. Generally, specimens are obtained only on chronically atrophic retinas.

See Workup for more detail.

Management

There is currently no cure for RP; therefore, therapies are limited. Nonetheless, it is essential to help patients maximize the vision they do have with refraction and low-vision evaluation.

Pharmacotherapy

Medications used in the management of RP include the following:

  • Fat-soluble vitamins (eg, vitamin A, vitamin E, ascorbic acid)
  • Calcium-channel blockers (eg, diltiazem)
  • Carbonic anhydrase inhibitors (eg, acetazolamide, methazolamide)

The following are medications with potential adverse effects in RP:

  • Isotretinoin (Accutane)
  • Sildenafil (Viagra)
  • High-dose vitamin E

Surgery

Surgical management of RP generally involves cataract extraction. However, following FDA approval in February 2013 for the first retinal implant in adults with severe cases of RP, implantation of this device may become a viable treatment option.[1]

Investigational procedures with potential in managing RP include the following:

  • Surgical placement of growth factors
  • Transplantation of retinal or retinal pigment epithelial (RPE) tissue
  • Placement of retinal prosthesis or phototransducing chip
  • Subretinal gene therapy

See Treatment and Medication for more detail.

Next

Background

Retinitis pigmentosa (RP) is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss.

Gross pathology of an eye in a man with retinitis Gross pathology of an eye in a man with retinitis pigmentosa.

With advances in molecular research, it is now known that RP constitutes many retinal dystrophies and retinal pigment epithelium (RPE) dystrophies caused by molecular defects in more than 40 different genes for isolated RP and more than 50 different genes for syndromic RP. Not only is the genotype heterogeneous, but patients with the same mutation can phenotypically have different disease manifestations. In this article, the clinical manifestations for diagnosis, the new molecular understandings of the pathogenesis, and the latest therapeutic options for patients are reviewed.

RP can be passed on by all types of inheritance: approximately 20% of RP is autosomal dominant (ADRP), 20% is autosomal recessive (ARRP), and 10% is X linked (XLRP), while the remaining 50% is found in patients without any known affected relatives. RP is most commonly found in isolation, but it can be associated with systemic disease. The most common systemic association is hearing loss (up to 30% of patients). Many of these patients are diagnosed with Usher syndrome. Other systemic conditions also demonstrate retinal changes identical to RP.

Usher syndrome with typical retinitis pigmentosa a Usher syndrome with typical retinitis pigmentosa appearance.

RP is a misnomer, as the word retinitis implies an inflammatory response, which has not been found to be a predominant feature of this condition. As molecular understanding increases, RP will be further characterized by the specific protein/genetic defect. This characterization will have increasing importance in the determination of a prognosis and will likely allow clinicians to use gene-targeted therapies.

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Pathophysiology

RP is typically thought of as a rod-cone dystrophy in which the genetic defects cause cell death (apoptosis), predominantly in the rod photoreceptors; less commonly, the genetic defects affect the RPE and cone photoreceptors.[3] RP has significant phenotypic variation, as there are many different genes that lead to a diagnosis of RP, and patients with the same genetic mutation can present with very different retinal findings.

Cone dystrophy. Cone dystrophy.
Cone dystrophy demonstrating typical central macul Cone dystrophy demonstrating typical central macular atrophy found in this condition.

Histopathologic changes in RP have been well documented, and, more recently, specific histologic changes associated with certain gene mutations are being reported. The final common pathway remains photoreceptor cell death by apoptosis. The first histologic change found in the photoreceptors is shortening of the rod outer segments. The outer segments progressively shorten, followed by loss of the rod photoreceptor. This occurs most significantly in the mid periphery of the retina. These regions of the retina reflect the cell apoptosis by having decreased nuclei in the outer nuclear layer. In many cases, the degeneration tends to be worse in the inferior retina, thereby suggesting a role for light exposure.

The final common pathway in RP is typically death of the rod photoreceptors that leads to vision loss. As rods are most densely found in the midperipheral retina, cell loss in this area tends to lead to peripheral vision loss and night vision loss. How a gene mutation leads to slow progressive rod photoreceptor death can occur by many paths, as illustrated by the fact that so many different mutations can lead to a similar clinical picture.

Cone photoreceptor death occurs in a similar manner to rod apoptosis with shortening of the outer segments followed by cell loss. This can occur early or late in the various forms of RP.

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Epidemiology

Frequency

United States

The prevalence of typical RP is reported to be approximately 1 in 4000 in the United States. The carrier state is believed to be approximately 1 in 100. The highest reported frequency of occurrence for RP is among the Navajo Indians at 1 in 1878.

International

Worldwide prevalence of RP is approximately 1 in 5000. The frequency of occurrence for RP has been reported to be as low as 1 in 7000 in Switzerland.

Mortality/Morbidity

A multicenter population study by Grover et al of patients with RP who were at least 45 years or older found the following findings: 52% had 20/40 or better vision in at least one eye, 25% had 20/200 or worse vision, and 0.5% had no light perception.[4]

Sex

Usually, no sexual predilection exists. X-linked RP is expressed only in males; therefore, because of these X-linked varieties, men may be affected slightly more than women.

Age

The age of onset can vary. RP usually is diagnosed in young adulthood, although it can present anywhere from infancy to the mid 30s to 50s.

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Contributor Information and Disclosures
Author

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 Medical Association, American Society of Cataract and Refractive Surgery, Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

Coauthor(s)

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 Director/President, Macular and Retinal Disease Center; President, Molecular Insight LLC; Consulting Surgeon, Glendale Eye Medical Group

Kent W Small, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Association for Physician Leadership, 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.

Specialty Editor Board

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 Director of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine

Steve Charles, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Retina Specialists, Macula Society, Retina Society, Club Jules Gonin

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

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Russell P Jayne, MD Consulting 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.

References
  1. 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.

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

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

  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. [Medline].

  5. Farrell DF. Unilateral retinitis pigmentosa and cone-rod dystrophy. Clin Ophthalmol. 2009. 3:263-70. [Medline]. [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. [Medline].

  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. [Medline].

  8. 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. [Medline].

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

  10. Neurotech. Results from Neurotech's NT-501 Phase 2 Retinitis Pigmentosa Studies Demonstrate Consistent Biological Effect on Photoreceptors. Neurotech. Available at http://www.neurotechusa.com/news_events/pr_2009-05-28.asp. Accessed: May 28, 2009.

  11. 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. [Medline].

  12. 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. [Medline].

  13. 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. [Medline].

  14. Humayun MS, Dorn JD, da Cruz L, Dagnelie G, Sahel JA, Stanga PE. Interim results from the international trial of Second Sight's visual prosthesis. Ophthalmology. 2012 Apr. 119(4):779-88. [Medline].

  15. da Cruz L, Coley BF, Dorn J, Merlini F, Filley E, Christopher P. The Argus II epiretinal prosthesis system allows letter and word reading and long-term function in patients with profound vision loss. Br J Ophthalmol. 2013 May. 97(5):632-6. [Medline].

  16. 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. [Medline].

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

  18. Jacobson SG, Cideciyan AV, Ratnakaram R, et al. Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations: Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years. Arch Ophthalmol. 2012 Jan. 130(1):9-24. [Medline].

  19. 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. [Medline].

  20. Acland GM, Aguirre GD, Bennett J, et al. Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther. 2005 Dec. 12(6):1072-82. [Medline].

  21. Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet. 2001 May. 28(1):92-5. [Medline].

  22. Aleman TS, Duncan JL, Bieber ML, et al. Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome. Invest Ophthalmol Vis Sci. 2001 Jul. 42(8):1873-81. [Medline].

  23. Amado RG, Chen IS. Lentiviral vectors--the promise of gene therapy within reach?. Science. 1999 Jul 30. 285(5428):674-6. [Medline].

  24. Balciuniene J, Johansson K, Sandgren O, Wachtmeister L, Holmgren G, Forsman K. A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics. 1995 Nov 20. 30(2):281-6. [Medline].

  25. Bateman JB, Philippart M. Ocular features of the Hagberg-Santavuori syndrome. Am J Ophthalmol. 1986 Aug 15. 102(2):262-71. [Medline].

  26. Baumgartner WA. Etiology, pathogenesis, and experimental treatment of retinitis pigmentosa. Med Hypotheses. 2000 May. 54(5):814-24. [Medline].

  27. Bemelmans AP, Kostic C, Crippa SV, et al. Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. PLoS Med. 2006 Oct. 3(10):e347. [Medline].

  28. Bennett J. Gene therapy for retinitis pigmentosa. Curr Opin Mol Ther. 2000 Aug. 2(4):420-5. [Medline].

  29. Bennett J, Zeng Y, Bajwa R, Klatt L, Li Y, Maguire AM. Adenovirus-mediated delivery of rhodopsin-promoted bcl-2 results in a delay in photoreceptor cell death in the rd/rd mouse. Gene Ther. 1998 Sep. 5(9):1156-64. [Medline].

  30. Berson EL. Hereditary retinal diseases. Albert DM, Jakobiec FA. Principles and Practices of Ophthalmology. Philadelphia: WB Saunders; 1994. 1181-1262.

  31. 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. [Medline].

  32. Berson EL, Rosner B, Sandberg MA, et al. Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: subgroup analyses. Arch Ophthalmol. 2004 Sep. 122(9):1306-14. [Medline].

  33. Berson EL, Rosner B, Sandberg MA, et al. Vitamin A supplementation for retinitis pigmentosa. Arch Ophthalmol. 1993 Nov. 111(11):1456-9. [Medline].

  34. Bok D. Ciliary neurotrophic factor therapy for inherited retinal diseases: pros and cons. Retina. 2005 Dec. 25(8 Suppl):S27-S28. [Medline].

  35. Brod RD, Packer AJ, Van Dyk HJ. Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes. Arch Ophthalmol. 1987 Oct. 105(10):1388-93. [Medline].

  36. Chow AY, Chow VY, Packo KH, Pollack JS, Peyman GA, Schuchard R. The artificial silicon retina microchip for the treatment of vision loss from retinitis pigmentosa. Arch Ophthalmol. 2004 Apr. 122(4):460-9. [Medline].

  37. Cogan DG, Rodrigues M, Chu FC, Schaefer EJ. Ocular abnormalities in abetalipoproteinemia. A clinicopathologic correlation. Ophthalmology. 1984 Aug. 91(8):991-8. [Medline].

  38. Dagnelie G, Zorge IS, McDonald TM. Lutein improves visual function in some patients with retinal degeneration: a pilot study via the Internet. Optometry. 2000 Mar. 71(3):147-64. [Medline].

  39. Dawson WW, Armstrong D, Greer M, Maida TM, Samuelson DA. Disease-specific electrophysiological findings in adult ceroid-lipofuscinosis (Kufs disease). Doc Ophthalmol. 1985 Aug 30. 60(2):163-71. [Medline].

  40. Delyfer MN, Leveillard T, Mohand-Said S, Hicks D, Picaud S, Sahel JA. Inherited retinal degenerations: therapeutic prospects. Biol Cell. 2004 May. 96(4):261-9. [Medline].

  41. Denman S, Weleber R, Hanifin JM, Cunningham W, Phipps R. Abnormal night vision and altered dark adaptometry in patients treated with isotretinoin for acne. J Am Acad Dermatol. 1986 Apr. 14(4):692-3. [Medline].

  42. Doonan F, Cotter TG. Apoptosis: a potential therapeutic target for retinal degenerations. Curr Neurovasc Res. 2004 Jan. 1(1):41-53. [Medline].

  43. Dyer DS, Wilson ME, Small KW, Pai GS. Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome. J Pediatr Ophthalmol Strabismus. 1994 Jul-Aug. 31(4):272-4. [Medline].

  44. Eiberg H, Gardiner RM, Mohr J. Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16. Clin Genet. 1989 Oct. 36(4):217-8. [Medline].

  45. Fain GL. Why photoreceptors die (and why they don't). Bioessays. 2006 Apr. 28(4):344-54. [Medline].

  46. Fan BJ, Tam PO, Choy KW, Wang DY, Lam DS, Pang CP. Molecular diagnostics of genetic eye diseases. Clin Biochem. 2006 Mar. 39(3):231-9. [Medline].

  47. Fishman GA, Farber MD, Derlacki DJ. X-linked retinitis pigmentosa. Profile of clinical findings. Arch Ophthalmol. 1988 Mar. 106(3):369-75. [Medline].

  48. Fishman GA, Gilbert LD, Anderson RJ, Marmor MF, Weleber RG, Viana MA. Effect of methazolamide on chronic macular edema in patients with retinitis pigmentosa. Ophthalmology. 1994 Apr. 101(4):687-93. [Medline].

  49. Fishman GA, Kumar A, Joseph ME, Torok N, Anderson RJ. Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol. 1983 Sep. 101(9):1367-74. [Medline].

  50. Fleischhauer J, Njoh WA, Niemeyer G. Syndromic retinitis pigmentosa: ERG and phenotypic changes. Klin Monatsbl Augenheilkd. 2005 Mar. 222(3):186-90. [Medline].

  51. Folz SJ, Trobe JD. The peroxisome and the eye. Surv Ophthalmol. 1991 Mar-Apr. 35(5):353-68. [Medline].

  52. Frasson M, Sahel JA, Fabre M, Simonutti M, Dreyfus H, Picaud S. Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse. Nat Med. 1999 Oct. 5(10):1183-7. [Medline].

  53. Gal A, Xu S, Piczenik Y, et al. Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. Hum Mol Genet. 1994 Feb. 3(2):323-5. [Medline].

  54. Gouras P, Carr RE. Electrophysiological studies in early retinitis pigmentosa. Arch Ophthalmol. 1964 Jul. 72:104-10. [Medline].

  55. Grant CA, Berson EL. Treatable forms of retinitis pigmentosa associated with systemic neurological disorders. Int Ophthalmol Clin. 2001 Winter. 41(1):103-10. [Medline].

  56. Heckenlively J. The frequency of posterior subcapsular cataract in the hereditary retinal degenerations. Am J Ophthalmol. 1982 Jun. 93(6):733-8. [Medline].

  57. Heckenlively JR. Retinitis Pigmentosa. XIV. Philadelphia: Lippincott; 1988.

  58. Herse P. Retinitis pigmentosa: visual function and multidisciplinary management. Clin Exp Optom. 2005 Sep. 88(5):335-50. [Medline].

  59. Hims MM, Diager SP, Inglehearn CF. Retinitis pigmentosa: genes, proteins and prospects. Dev Ophthalmol. 2003. 37:109-25. [Medline].

  60. Hollyfield JG, Anderson RE, LaVail MM. Retinal Degenerative Diseases and Experimental Therapy. XIV. [1] leaf of col. plates. New York: Kluwer Academic/Plenum Publishers; 1999.

  61. Hossain P, Seetho IW, Browning AC, Amoaku WM. Artificial means for restoring vision. BMJ. 2005 Jan 1. 330(7481):30-3. [Medline]. [Full Text].

  62. Hunter DG, Fishman GA, Mehta RS, Kretzer FL. Abnormal sperm and photoreceptor axonemes in Usher's syndrome. Arch Ophthalmol. 1986 Mar. 104(3):385-9. [Medline].

  63. Joshi AR, Mullen L, Small KW. The retina: genetic studies of several retinopathies located on the short arm of chromosome 17. Curr Opin Neurol. 1997 Feb. 10(1):31-5. [Medline].

  64. Kalloniatis M, Fletcher EL. Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options. Clin Exp Optom. 2004 Mar. 87(2):65-80. [Medline].

  65. Kaplan J, Gerber S, Bonneau D, et al. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics. 1992 Dec. 14(4):979-87. [Medline].

  66. Kennan A, Aherne A, Humphries P. Light in retinitis pigmentosa. Trends Genet. 2005 Feb. 21(2):103-10. [Medline].

  67. Kimberling WJ, Moller CG, Davenport S, et al. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics. 1992 Dec. 14(4):988-94. [Medline].

  68. Kimberling WJ, Moller CG, Davenport S, et al. Lutein and zeaxanthin exhibit photoprotective and anti-apoptotic activities in vitro. Invest Ophthalmol Vis Sci. 1998.

  69. Kimberling WJ, Weston M, Moller C. Clinical and genetic heterogeneity of Usher syndrome. Wright AF, Jay B. Molecular Genetics of Inherited Eye Disorders. Chur, Switzerland: Harwood; 1994. 359-382.

  70. Kimura AE, Drack AV, Stone EM. Retinitis pigmentosa and associated disorders. Wright K, ed. Pediatric Ophthalmology and Strabismus. St. Louis: Mosby; In press.

  71. Marmor MF. The electroretinogram in retinitis pigmentosa. Arch Ophthalmol. 1979 Jul. 97(7):1300-4. [Medline].

  72. Marmor MF, Kessler R. Sildenafil (Viagra) and ophthalmology. Surv Ophthalmol. 1999 Sep-Oct. 44(2):153-62. [Medline].

  73. Masuno M, Shimozawa N, Suzuki Y, et al. Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization. Genomics. 1994 Mar 1. 20(1):141-2. [Medline].

  74. McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet. 1993 Jun. 4(2):130-4. [Medline].

  75. Miggiano GA, Falsini B. [Diet and management of degenerative diseases of the retina (retinitis pigmentosa)]. Clin Ter. 2004 Jul-Aug. 155(7-8):347-51. [Medline].

  76. Moosajee M. Genes and the eye. J R Soc Med. 2005 May. 98(5):206-7. [Medline].

  77. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 1989 May 18. 320(20):1293-9. [Medline].

  78. Murakami A, Yajima T, Inana G. Isolation of human retinal genes: recoverin cDNA and gene. Biochem Biophys Res Commun. 1992 Aug 31. 187(1):234-44. [Medline].

  79. Naash ML, Peachey NS, Li ZY, et al. Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin. Invest Ophthalmol Vis Sci. 1996 Apr. 37(5):775-82. [Medline].

  80. Nadig MN. Development of a silicon retinal implant: cortical evoked potentials following focal stimulation of the rabbit retina with light and electricity. Clin Neurophysiol. 1999 Sep. 110(9):1545-53. [Medline].

  81. Naka H, et al. Ascorbic acid does not protect photic injury by blue light in the rat retina. Invest Ophthalmol Vis Sci. 1998.

  82. Nathans J, Hogness DS. Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Natl Acad Sci U S A. 1984 Aug. 81(15):4851-5. [Medline]. [Full Text].

  83. Newsome DA. Retinal fluorescein leakage in retinitis pigmentosa. Am J Ophthalmol. 1986 Mar 15. 101(3):354-60. [Medline].

  84. Norton EW. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol. 1993 Nov. 111(11):1460; author reply 1463-5. [Medline].

  85. Paskowitz DM, LaVail MM, Duncan JL. Light and inherited retinal degeneration. Br J Ophthalmol. 2006 Aug. 90(8):1060-6. [Medline].

  86. Petersen-Jones S. Advances in the molecular understanding of canine retinal diseases. J Small Anim Pract. 2005 Aug. 46(8):371-80. [Medline].

  87. Phelan JK, Bok D. A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Mol Vis. 2000 Jul 8. 6:116-24. [Medline].

  88. Pilli S, Zawadzki RJ, Telander DG. The dose-dependent macular thickness changes assessed by fd-oct in patients with retinitis pigmentosa treated with ciliary neurotrophic factor. Retina. 2014 Jul. 34(7):1384-90. [Medline].

  89. Polak BC, Hogewind BL. Macular lesions in Alport's disease. Am J Ophthalmol. 1977 Oct. 84(4):532-5. [Medline].

  90. Radtke ND, Aramant RB, Seiler M, Petry HM. Preliminary report: indications of improved visual function after retinal sheet transplantation in retinitis pigmentosa patients. Am J Ophthalmol. 1999 Sep. 128(3):384-7. [Medline].

  91. Radtke ND, Aramant RB, Seiler MJ, Petry HM, Pidwell D. Vision change after sheet transplant of fetal retina with retinal pigment epithelium to a patient with retinitis pigmentosa. Arch Ophthalmol. 2004 Aug. 122(8):1159-65. [Medline].

  92. Radtke ND, Seiler MJ, Aramant RB, Petry HM, Pidwell DJ. Transplantation of intact sheets of fetal neural retina with its retinal pigment epithelium in retinitis pigmentosa patients. Am J Ophthalmol. 2002 Apr. 133(4):544-50. [Medline].

  93. Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 2002 May 15. 11(10):1219-27. [Medline].

  94. Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992 Jun. 1(3):209-13. [Medline].

  95. Sankila EM, Pakarinen L, Kaariainen H, et al. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet. 1995 Jan. 4(1):93-8. [Medline].

  96. Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol. 1982 Feb. 100(2):285-8. [Medline].

  97. Schmidt-Erfurth U. Nutrition and retina. Dev Ophthalmol. 2005. 38:120-47. [Medline].

  98. Schwendemann G, Elze KL, Koepp P, Lagenstein I, Steinhausen HC, Colmant HJ. Juvenile type of generalized ceroid-lipofuscinosis (Spielmeyer-Sjögren syndrome) I. Clinical findings. Neuropadiatrie. 1978 Feb. 9(1):3-27. [Medline].

  99. Shimozawa N, Tsukamoto T, Suzuki Y, et al. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science. 1992 Feb 28. 255(5048):1132-4. [Medline].

  100. Small KW, Anderson WB Jr. Pigmented paravenous retinochoroidal atrophy. Discordant expression in monozygotic twins. Arch Ophthalmol. 1991 Oct. 109(10):1408-10. [Medline].

  101. Small KW, Letson R, Scheinman J. Ocular findings in primary hyperoxaluria. Arch Ophthalmol. 1990 Jan. 108(1):89-93. [Medline].

  102. Smith LE. Bone marrow-derived stem cells preserve cone vision in retinitis pigmentosa. J Clin Invest. 2004 Sep. 114(6):755-7. [Medline]. [Full Text].

  103. Smith PR, Bain SC, Good PA, et al. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. Ophthalmology. 1999 Jun. 106(6):1101-8. [Medline].

  104. Smith RJ, Lee EC, Kimberling WJ, et al. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 1992 Dec. 14(4):995-1002. [Medline].

  105. Stojanovic A, Hwa J. Rhodopsin and retinitis pigmentosa: shedding light on structure and function. Receptors Channels. 2002. 8(1):33-50. [Medline].

  106. Szlyk JP, Fishman GA, Alexander KR, Peachey NS, Derlacki DJ. Clinical subtypes of cone-rod dystrophy. Arch Ophthalmol. 1993 Jun. 111(6):781-8. [Medline].

  107. Szlyk JP, Seiple W, Laderman DJ, Kelsch R, Ho K, McMahon T. Use of bioptic amorphic lenses to expand the visual field in patients with peripheral loss. Optom Vis Sci. 1998 Jul. 75(7):518-24. [Medline].

  108. Takahashi M, Miyoshi H, Verma IM, Gage FH. Rescue from photoreceptor degeneration in the rd mouse by human immunodeficiency virus vector-mediated gene transfer. J Virol. 1999 Sep. 73(9):7812-6. [Medline].

  109. Takano Y, Ohguro H, Dezawa M, et al. Study of drug effects of calcium channel blockers on retinal degeneration of rd mouse. Biochem Biophys Res Commun. 2004 Jan 23. 313(4):1015-22. [Medline].

  110. Traboulsi EI, Green WR, Luckenbach MW, de la Cruz ZC. Neuronal ceroid lipofuscinosis. Ocular histopathologic and electron microscopic studies in the late infantile, juvenile, and adult forms. Graefes Arch Clin Exp Ophthalmol. 1987. 225(6):391-402. [Medline].

  111. Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature. 1989 Mar 2. 338(6210):70-3. [Medline].

  112. Travis GH, Hepler JE. A medley of retinal dystrophies. Nat Genet. 1993 Mar. 3(3):191-2. [Medline].

  113. van Soest S, Westerveld A, de Jong PT, Bleeker-Wagemakers EM, Bergen AA. Retinitis pigmentosa: defined from a molecular point of view. Surv Ophthalmol. 1999 Jan-Feb. 43(4):321-34. [Medline].

  114. Wang DY, Chan WM, Tam PO, et al. Genetic markers for retinitis pigmentosa. Hong Kong Med J. 2005 Aug. 11(4):281-8. [Medline].

  115. Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995 Mar 2. 374(6517):60-1. [Medline].

  116. Weiland JD, Liu W, Humayun MS. Retinal prosthesis. Annu Rev Biomed Eng. 2005. 7:361-401. [Medline].

  117. Weleber RG. Stargardt's macular dystrophy. Arch Ophthalmol. 1994 Jun. 112(6):752-4. [Medline].

  118. Weleber RG, Denman ST, Hanifin JM, Cunningham WJ. Abnormal retinal function associated with isotretinoin therapy for acne. Arch Ophthalmol. 1986 Jun. 104(6):831-7. [Medline].

  119. Weleber RG, Gregory-Evans K. Retinitis pigmentosa and allied disorders. Ryan SJ. Retina. 4th ed. Philadelphia: Elsevier/Mosby; 2006. Vol I: 395-498.

  120. Wright AF, Jay B, eds. Molecular Genetics of Inherited Eye Disorders. Chur, Switzerland: Harwood; 1994. Vol 2:

  121. Yamazaki H, Ohguro H, Maeda T, et al. Preservation of retinal morphology and functions in royal college surgeons rat by nilvadipine, a Ca(2+) antagonist. Invest Ophthalmol Vis Sci. 2002 Apr. 43(4):919-26. [Medline].

  122. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology. 1988 Sep. 38(9):1339-46. [Medline].

  123. Zylbermann R, Silverstone BZ, Brandes E, Drukker A. Retinal lesions in Alport's syndrome. J Pediatr Ophthalmol Strabismus. 1980 Jul-Aug. 17(4):255-60. [Medline].

 
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Usher syndrome with typical retinitis pigmentosa appearance.
Choroideremia.
Bull's eye maculopathy seen in cone dystrophy.
Polydactyly seen in Bardet-Biedl syndrome (associated with retinitis pigmentosa).
Cone dystrophy.
Gross pathology of an eye in a man with retinitis pigmentosa.
Leber congenital amaurosis.
Female carrier of choroideremia.
Representative electroretinograms of patients with healthy eyes, rod-cone dystrophy, and congenital stationary night blindness. Courtesy of Dr. Nusinowitz, Jules Stein Eye Institute.
Representative electroretinograms of patients with healthy eyes and X-linked retinoschisis. Courtesy of Dr. Nusinowitz, Jules Stein Eye Institute.
Retinitis pigmentosa pigmentation pattern demonstrated with ultrawide fundus imaging using the scanning laser ophthalmoscope (Optomap; Optos PLC, Dunfermline, Scotland, United Kingdom).
Fellow eye of same patient as in the image above, again demonstrating a typical retinitis pigmentosa pigmentation pattern demonstrated with ultrawide fundus imaging using the scanning laser ophthalmoscope (Optomap; Optos PLC, Dunfermline, Scotland, United Kingdom).
Higher resolution image of typical bone spicule formation.
Cone dystrophy demonstrating typical central macular atrophy found in this condition.
Retinitis pigmentosa, rubella, a history of retinal detachment, and syphilis all may result in a hyperpigmented retinal pigment epithelium (RPE) with bone spicule appearance, restricted visual field and/or poor vision, and atrophic vessels.
Retinitis pigmentosa progresses over decades. Associated cataract also is relevant, as seen in this image.
Pigmentary changes are not always seen in retinitis pigmentosa but frequently are observed, as in this patient with Alström disease.
Genetic screening may be helpful in identifying patients who are at risk, in counseling, and in directing treatment as new knowledge is acquired. Some varieties of retinitis pigmentosa may have increased vulnerability to environmental hazards; for example, one might avoid light exposure in some rhodopsin mutations or sildenafil in phosphodiesterase mutations. Patients with retinitis pigmentosa may have other findings. This patient with Alström disease shows acanthosis.
 
 
 
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