29th December 2023

Management

Genetic testing:

Genetic testing should be considered to identify the defective gene. This may help confirm or refine the diagnosis, identify appropriate patients for clinical trials and future treatments, provide an estimation of visual prognosis and rate of progression, and help with family planning. Genetic counselling should be offered.

Optimising visual outcome:

The majority of RP cases are treated conservatively.

Carbonic anhydrase inhibitors (topical or systemic) should be considered for patients who develop cystoid macular oedema, as should cataract surgery for symptomatic cataracts. Visual rehabilitation in terms of low vision aids and low vision clinic referral are advised.

Treatment with vitamin A and DHA supplementation have previously been recommended, but there is no conclusive evidence that they are effective in halting disease progression.

Slowing disease progression:

Few treatment options specific to RP are available at present. Advances in gene therapy have been made in recent years, and subretinal injections of Voretigene neparvovec (Luxturna) are now available to treat selected cases of retinitis pigmentosa and Leber’s congenital amaurosis due to the RPE65 mutation.

Patients with rare forms of RP, such as Refsum disease, should have a diet restricted in foods containing phytanic acid, such as milk products and animal fats. Those with Bassen-Kornzweig syndrome should have a low-fat diet and take fat-soluble vitamin supplements (specifically vitamins A, D, E and K).

Source: Wikimedia Commons (2017). Fundus of patient with retinitis pigmentosa, mid stage, Licensed under a creative commons licence. Available for free at: https://commons.wikimedia.org/wiki/File:Fundus_of_patient_with_retinitis_pigmentosa,_mid_stage.jpg (Accessed on: 18 June 2022).