Retinitis Pigmentosa Treatment & Management

  • Author: David G Telander, MD, PhD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Feb 2, 2012
 

Medical Care

The diagnosis of retinitis pigmentosa (RP) can be overwhelming to many patients. While therapies are limited, physicians should emphasize the therapies that are available to help patients. Perhaps, most importantly, it is essential to help patients maximize the vision they do have with refraction and low-vision evaluation. Many devices are available to help patients with night vision difficulties, and most low-vision clinics are aware of these devices.

The authors believe that patients should have annual examinations, including visual field testing and periodic (every 5 y) ERG evaluations. Changes in examination findings can help guide patients in their activities and can help with prognosis. Often, these examinations can provide reassurance that the changes are slow. In addition, regular examinations can ensure patients have appropriate community and legal assistance. Finally, as new therapies emerge, routine evaluation can keep patients informed of clinical trials and new treatments.

  • Vitamin A/beta-carotene
    • Antioxidants may be useful in treating patients with RP, but no clear, prospective evidence in favor of vitamin supplementation yet exists.
    • A recent comprehensive epidemiologic study concluded that very high daily doses of vitamin A palmitate (15,000 U/d) slow the progress of RP by about 2% per year. The effects are modest; therefore, this treatment must be weighed against the uncertain risk of long-term adverse effects from large chronic doses of vitamin A.
    • Annually check liver enzymes and vitamin A levels. Beta-carotene doses of 25,000 IU have been recommended.
  • Docosahexaenoic acid (DHA)
    • DHA is an omega-3 polyunsaturated fatty acid and antioxidant.
    • Studies have shown a correlation of ERG amplitudes with patients' erythrocyte-DHA concentration. Others studies reported trends of less ERG change in patients with higher levels of DHA. However, a recent study compared DHA plus vitamin A to vitamin A alone in patients with RP over 4 years. In this study, the benefit of DHA was not seen. Further clinical trials must be done to determine DHA benefit.
  • Acetazolamide
    • Macular edema can reduce vision in the later stages of RP. Of the many therapies tried, oral acetazolamide has shown the most encouraging results with some improvement in visual function. Studies by Fishman et al and Cox et al have demonstrated improvement in Snelling visual acuity with oral acetazolamide for patients who have RP with macular edema.[7]
    • Topical acetazolamide can be effective but has not been found to be as effective as oral therapy.
    • Adverse effects, including fatigue, renal stones, loss of appetite, hand tingling, and anemia, may limit its use.
    • The use of corticosteroids for macular edema may be useful but has not been well studied.
  • Calcium channel blockers
    • Calcium channel blockers, such as diltiazem, are medications commonly used in cardiac disease.
    • Calcium channel blockers have shown some benefit in some animal models of RP, but they have been ineffective in other models.
    • No current recommendations exist regarding the use of calcium channel blockers in patients with RP.
  • Lutein/zeaxanthin
    • Lutein and zeaxanthin are macular pigments that the body cannot make but instead come from dietary sources.
    • Lutein is thought to protect the macula from oxidative damage, and oral supplementation has been shown to increase the macular pigment.
    • A National Institutes of Health (NIH) clinical trial, the Age-Related Eye Disease Study II (AREDS II), is beginning to test the effectiveness of lutein and zeaxanthin to slow age-related macular degeneration. Their ability to prevent cone photoreceptor cell death (such as what occurs in RP) has not been shown.
    • Doses of 20 mg/d have been recommended.
  • Valproic acid: Oral valproic acid has shown benefit in clinical trials, and larger clinical trials are underway.
  • Medications with potential adverse effects in RP
    • Isotretinoin (Accutane): A medication used to treat acne has been reported to worsen night vision, ERG response, and dark adaptation. As its safety in patients with RP is not known, many physicians do not recommend isotretinoin use for their patients.
    • Sildenafil (Viagra): A medication to treat erectile dysfunction has been shown to cause reversible ERG and vision changes. Sildenafil is an inhibitor of PDE5 and less so PDE6. Mutations of the PDE6 gene are known to cause autosomal recessive RP. Therefore, physicians have suggested that this medication may not be safe for patients with RP, including carriers of the PDE6B gene mutation. Some users of sildenafil have experienced blue photopsias, suggesting that the drug is active in the retina at a physiological level.
    • Vitamin E: Reports have suggested that high doses of vitamin E (400 U/d) may be modestly deleterious in patients with RP, but doses as high as 800 IU/d have been recommended.
  • Other medications
    • Although doses of 1000 mg/d ascorbic acid have been recommended, no evidence exists that ascorbic acid is helpful.
    • Although bilberry is recommended by some practitioners of alternative medicine in doses of 80 mg, no controlled studies exist that document its safety or efficacy in treating patients with RP.
    • In patients who present with antiretinal antibodies, immunosuppressive agents (including steroids) have been used with anecdotal success.
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Surgical Care

  • Cataract extraction
    • Cataract surgery can often be beneficial in the later stages of RP. Bastek et al studied 30 patients with RP; 83% of them improved by 2 lines on the Snellen visual acuity chart with cataract surgery.[8]
    • Perioperative use of corticosteroids is recommended to prevent postoperative cystoid macular edema.
    • Educating patients about reasonable expectations of cataract surgery is essential.
  • Growth factors
    • Ciliary neurotrophic factor (CNTF) has been shown to slow retinal degeneration in a number of animal models.
    • Phase II clinical trials are underway using an encapsulated form of RPE cells producing CNTF (Neurotech) for patients with Usher syndrome and RP. These encapsulated cells must be surgically placed into the eye. Phase I clinical trial results have been encouraging.
    • In May 2009, Neurotech released results from this study, showing evidence of retinal thickening after 1 year of treatment.[9] Visual improvement was not seen at this time point, but researchers believe more time may be needed to show preservation of function as compared to the untreated eye.[9] Interestingly, patients with atrophic age-related macular degeneration treated with the same growth factor did have a measurable visual improvement after 1 year.[9]
  • Transplantation
    • Small patches of retinal or RPE tissue have been transplanted, and this technique could be helpful in the following RP forms: when RP is based on an RPE defect, when RP with primary defects exists in the outer segments, if the disease is driven by an overload of the phagocytic activity of the RPE, or if the RPE cannot provide sufficient nutritional support to the outer segments.
    • RPE cell transplants have been placed into the subretinal space to rescue photoreceptors in animal models of RP. One approach that may prove useful is ex vivo modification of these cells to provide trophic factors.
    • Stem cells are being actively investigated as a potential source to replace damaged RPE or photoreceptor cells. Both adult bone marrow–derived stem cells and embryonic stem cells are being used in animal models with the goal to investigate how to induce appropriate cell integration and differentiation.
    • No current investigational protocols exist in humans for this type of intervention.
  • Retinal prosthesis
    • A retinal prosthesis or phototransducing chip placed on the retinal surface has been investigated for several years. The healthy ganglion cell layer of the retina can be stimulated, and implants in animal models have long-term stability.[10]
    • In a study by Humayun et al, this has been shown to be beneficial in human subjects.[11] One patient who had no light perception from RP was able to see and localize a flashlight after the prosthesis. With this prosthesis, an external camera (placed in the patient's eyeglasses) transmits to the retinal prosthesis. Additional clinical trials are underway.
    • Chow et al placed subretinal microphotodiodes (prosthesis) in patients with severe RP.[12] These patients had subjective improvement; however, the improvement was delayed and occurred in retinal areas outside of where the chip was placed. Therefore, the effect was thought to be an indirect benefit to adjacent cells.
    • Currently, no retinal prosthesis is available for clinical use, and this technology remains investigational.
  • Gene therapy
    • Gene therapy is under investigation, with the hope to replace the defective protein by using DNA vector (eg, adenovirus, lentivirus).[13]
    • Gene therapy was successful in providing the missing protein to a dog with Leger congenital amaurosis (LCA). Using adeno-associated virus (AAV), the Briard dog with RPE65 mutations after treatment had 20% of its RPE cells express the functional protein, thereby allowing the dog to see. This was also effective in a mouse model of Leber congenital amaurosis. Leber congenital amaurosis. Leber congenital amaurosis.
    • Gene therapy is now in human clinical trials for LCA, with promising results. In fact, 8 trials referring to gene therapy and RPE65 mutations are open and listed on the clinicaltrials.gov Web site.
    • Because of the wide heterogeneity of defects in RP, gene therapy must be targeted specifically to each mutation.
    • Jacobson et al found that gene therapy is acceptably safe and effective in the extrafoveal retina for LCA caused by RPE65 mutations; however, no benefit and some risk was noted in treating the fovea. Age-dependent effects were not evident.[14]
    • It is not known which, if any, of the RP forms will show reversibility (even with a nondestructive reinsertion of the appropriate gene in the appropriate locus with appropriate regulation).
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Consultations

  • Clearly, RP is associated with several systemic diseases. Because of the severity of the systemic illness and its early presentation in most patients, the ophthalmologist may act as the consultant to an internist.
  • Low-vision specialists can provide magnifying devices and field-expanding lenses for patients with RP who have poor central vision.
  • Audiology consults should be considered for patients with hearing loss or for those patients with known Usher syndrome.
  • Genetic testing and counseling is becoming increasingly valuable as the understanding of RP increases. Identification of the patient’s genotype offers several advantages. First, it confirms the genetic cause of the condition. In addition, it can occasionally help determine prognosis and may likely prove to be important for future therapy choices. Genetic counseling is very helpful to guide patients on the hereditary nature of their disease and the mode of inheritance. This counseling can help the patients with their future plans, such as pregnancy, job choices, and medical treatments.
  • Moreoever, psychological counseling should be made available to those patients when appropriate.
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Diet

  • Many practitioners recommend a well-balanced diet with adequate leafy green vegetables that contain the aforementioned supplements in nontoxic doses.
  • No evidence exists that particular foods in excess are helpful or harmful.
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Activity

  • Light exposure
    • Stressful light exposure, which generates free radicals and strains the regenerative capacity of the eye, might put dystrophic retinas at a disadvantage. However, little direct or epidemiologic evidence exists that the disease is modified by light.
    • A specific form of RP, the Pro23His mutation in rhodopsin, has been shown to have increased retinal damage with increased light exposure.
    • UV-absorbing lenses are recommended, particularly in rhodopsin mutation varieties of RP, and patients with cone degeneration frequently benefit from tinted lenses.
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Contributor Information and Disclosures
Author

David G Telander, MD, PhD  Assistant Professor, Department of Ophthalmology and Vision Science, Division of Vitreo-Retinal Diseases and Surgery, 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, and 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 and 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 College of Physician Executives, 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, Pan-American Association of Ophthalmology, and Retina Society

Disclosure: Nothing to disclose.

Specialty Editor Board

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, and American Society of Retina Specialists

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD  Associate Professor 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, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

Steve Charles, MD  Director of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine; Adjunct Professor of Ophthalmology, Columbia College of Physicians and Surgeons; Clinical Professor Ophthalmology, Chinese University of Hong Kong

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

Disclosure: Alcon Laboratories Consulting fee Consulting; OptiMedica Ownership interest Other; Topcon Medical Lasers Consulting fee Consulting

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

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, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

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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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