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

ACUTE

all patients

1st line – assessment of refractive ability ± visual aids

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ACUTE
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all patients
1st line – 

assessment of refractive ability ± visual aids

An assessment with a low-vision specialist (ophthalmologist or optometrist) is recommended to accurately determine and optimize visual ability. Visual aids such as glasses, magnifiers, or telescopes may be helpful.

Consider – vitamin A supplementation

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ACUTE
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all patients
Consider – 

vitamin A supplementation

Treatment recommended for SOME patients in selected patient group

Routinely recommended by some centers but opposed by others.

Should be avoided in patients with cone-rod dystrophy based on more rapid retinal degeneration seen in experiments with mice.

Long-term high-dose vitamin A supplementation seems safe but can elevate liver enzymes and triglycerides and increase the risk of osteoporosis.[33] Patients receiving vitamin A should be monitored by their physician for these potential adverse effects.

The use of vitamin A has not been studied in children with RP and therefore is usually avoided.

Primary options

vitamin A (retinol): adults: 15,000 units orally once daily

Consider – fish oils

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ACUTE
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all patients
Consider – 

fish oils

Treatment recommended for SOME patients in selected patient group

Three randomized studies in patients with RP did not show a significant benefit, but many centers still recommend supplementation due to the low risk and potential benefit.[36][37][38][39]

Consider – lutein

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ACUTE
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all patients
Consider – 

lutein

Treatment recommended for SOME patients in selected patient group

Is a carotenoid, found in the human retina and dark green leafy vegetables. A randomized controlled trial examined the efficacy of lutein to slow visual field loss in patients with RP who were taking vitamin A.[40] The study showed a reduction in the loss of mid-peripheral visual fields.[40] However, others have challenged the conclusions of this study.[41]

Primary options

lutein: consult specialist for guidance on dose

Consider – surgery

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ACUTE
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all patients
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with cataracts
Consider – 

surgery

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 edema before cataract extraction because this can worsen after surgery. Occult weak zonules require appropriate surgical precautions to minimize the risks of complications during cataract surgery.

Consider – carbonic anhydrase inhibitor

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ACUTE
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all patients
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with cystoid macular edema
Consider – 

carbonic anhydrase inhibitor

Treatment recommended for SOME patients in selected patient group

Inhibitors such as topical dorzolamide or oral acetazolamide are effective at treating cystoid macular edema in some patients. May need several months of treatment before an effect is seen.[42][43]

Effects can wear off with time, and some patients do not benefit. Furthermore, many patients cannot tolerate the adverse effects of these medicines such as paresthesias 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

Consider – voretigene neparvovec

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ACUTE
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all patients
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with biallelic RPE65 mutations
Consider – 

voretigene neparvovec

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 RPE65-mediated inherited retinal dystrophy.[50] It is administered as a subretinal injection. Patients must have sufficient viable retinal cells to be considered for this treatment.[50]

Primary options

voretigene neparvovec subretinal: consult specialist for guidance on dose

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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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