Retinitis pigmentosa
- Overview
- Theory
- Diagnosis
- Management
- Follow up
- Resources
Treatment algorithm
Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer
all patients
assessment of refractive ability ± visual aids
An assessment with a low-vision consultant (ophthalmologist or optometrist) is recommended to accurately determine and optimise visual ability. Visual aids such as glasses, magnifiers, or telescopes may be helpful.
docosahexaenoic acid (DHA)
Additional treatment recommended for SOME patients in selected patient group
DHA is an omega-3 fatty acid and key component of fish oils. It is present in high concentrations in the photoreceptors and may be a precursor for neuroprotective factors.[8]Jain N, Maguire MG, Flaxel CJ, et al. Dietary supplementation for retinitis pigmentosa: a report by the American Academy of Ophthalmology. Ophthalmology. 2025 Mar;132(3):354-67. https://www.aaojournal.org/article/S0161-6420(24)00553-0/fulltext http://www.ncbi.nlm.nih.gov/pubmed/39453328?tool=bestpractice.com
Three randomised studies in patients with retinitis pigmentosa did not show a significant benefit, but many centres still recommend supplementation due to the low risk and potential benefit.[44]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 Sep;122(9):1297-305. http://www.ncbi.nlm.nih.gov/pubmed/15364708?tool=bestpractice.com [45]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 Apr;137(4):704-18. http://www.ncbi.nlm.nih.gov/pubmed/15059710?tool=bestpractice.com [46]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 Jul;132(7):866-73. http://www.ncbi.nlm.nih.gov/pubmed/24805262?tool=bestpractice.com [47]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 Jul 11;55(8):4958-66. http://www.ncbi.nlm.nih.gov/pubmed/25015354?tool=bestpractice.com
lutein
Additional treatment recommended for SOME patients in selected patient group
One randomised controlled trial examined the efficacy of lutein (a dietary carotenoid, found in the human retina and dark green leafy vegetables) to slow visual field loss in patients with retinitis pigmentosa who were taking vitamin A.[48]Berson EL, Rosner B, Sandberg MA, et al. Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A. Arch Ophthalmol. 2010 Apr;128(4):403-11. http://www.ncbi.nlm.nih.gov/pubmed/20385935?tool=bestpractice.com The study showed a reduction in the loss of mid-peripheral visual fields.[48]Berson EL, Rosner B, Sandberg MA, et al. Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A. Arch Ophthalmol. 2010 Apr;128(4):403-11. http://www.ncbi.nlm.nih.gov/pubmed/20385935?tool=bestpractice.com However, others have challenged the conclusions of this study.[49]Massof RW, Fishman GA. How strong is the evidence that nutritional supplements slow the progression of retinitis pigmentosa? Arch Ophthalmol. 2010 Apr;128(4):493-5. http://www.ncbi.nlm.nih.gov/pubmed/20385948?tool=bestpractice.com
surgery
Additional treatment recommended for SOME patients in selected patient group
Cataract extraction can benefit many patients, especially if the degeneration has not involved the central macula. It is important to rule out the presence of cystoid macular oedema before cataract extraction because this can worsen after surgery. Occult weak zonules require appropriate surgical precautions to minimise the risks of complications during cataract surgery.
carbonic anhydrase inhibitor
Additional treatment recommended for SOME patients in selected patient group
Carbonic anhydrase inhibitors such as topical dorzolamide or oral acetazolamide are effective at treating cystoid macular oedema in some patients. May need several months of treatment before an effect is seen.[50]Grover S, Apushkin MA, Fishman GA. Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. Am J Ophthalmol. 2006 May;141(5):850-8. http://www.ncbi.nlm.nih.gov/pubmed/16546110?tool=bestpractice.com [51]Fishman GA, Gilbert LD, Fiscella RG, et al. Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Arch Ophthalmol. 1989 Oct;107(10):1445-52. http://www.ncbi.nlm.nih.gov/pubmed/2803090?tool=bestpractice.com
Effects can wear off with time, and some patients do not benefit. Furthermore, many patients cannot tolerate the adverse effects of these drugs such as paraesthesias and frequent urination.
Primary options
dorzolamide ophthalmic: (2%) 1 drop into the affected eye(s) three times daily
OR
acetazolamide: 500 mg orally (extended-release) once daily initially, adjust dose according to response
voretigene neparvovec
Additional treatment recommended for SOME patients in selected patient group
Voretigene neparvovec, an adeno-associated virus vector carrying a normal copy of the RPE65 gene, has been shown to improve functional vision in patients with biallelic RPE65-mutation associated retinal dystrophy, and is approved for treatment in this patient group.[58]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. https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(17)31868-8/fulltext http://www.ncbi.nlm.nih.gov/pubmed/28712537?tool=bestpractice.com It is administered as a subretinal injection. Studies have also demonstrated a consistent safety profile and longer-term efficacy.[59]Maguire AM, Russell S, Wellman JA, et al. Efficacy, safety, and durability of voretigene neparvovec-rzyl in RPE65 mutation-associated inherited retinal dystrophy: results of phase 1 and 3 trials. Ophthalmology. 2019 Sep;126(9):1273-85. http://www.ncbi.nlm.nih.gov/pubmed/31443789?tool=bestpractice.com [60]Maguire AM, Russell S, Chung DC, et al. Durability of voretigene neparvovec for biallelic RPE65-mediated inherited retinal disease: phase 3 results at 3 and 4 years. Ophthalmology. 2021 Oct;128(10):1460-8. https://www.aaojournal.org/article/S0161-6420(21)00236-0/fulltext http://www.ncbi.nlm.nih.gov/pubmed/33798654?tool=bestpractice.com Patients must have sufficient viable retinal cells to be considered for this treatment.[58]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. https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(17)31868-8/fulltext http://www.ncbi.nlm.nih.gov/pubmed/28712537?tool=bestpractice.com
Primary options
voretigene neparvovec subretinal: consult specialist for guidance on dose
Choose a patient group to see our recommendations
Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer
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