Prescribing information



Luxturna®▼ (voretigene neparvovec) is indicated for the treatment of adult and paediatric patients with vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells.1

50% of patients with a rare disease do not have an accurate clinical diagnosis2

Misdiagnosis and long diagnostic delays are a common emotional burden for patients and their families.2

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What’s the importance of genetic diagnosis?

It could identify patients with RPE65 mutations and can give them the opportunity to be assessed for eligibility for gene therapy:3,4

  • Multi-gene testing is appropriate for correct molecular diagnosis as there are >270 genes implicated in IRDs5–7
  • Any genetic test ordered must include RPE65 if RPE65 biallelic mutation is suspected1,4
  • Parents should be tested for segregation for confirmation of the biallelic mutation status3,8

Have a patient with a suspected or confirmed biallelic RPE65 mutation? Contact us

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How can I get an early, complete diagnosis for my patient?

A genetic test provides you with a final and complete diagnosis for your patient.7,9

An early genetic diagnosis changes the course of the patient’s disease management, in fact some mutations can indicate prognosis, disease severity and progression.10

A complete diagnosis before the opportunity to treat your patient with Luxturna is lost1

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Number 1 in a circle.

Identify patients with a diagnosis of LCA, RP or other IRDs by assessing medical and family history, signs and symptoms, visual acuity and completing a fundus examination7,11

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Confirm your patient has biallelic RPE65 gene mutations1,4,8

  • Gain consent9 and refer your patient for a genetic test to confirm biallelic RPE65 mutations

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Number 3 in a circle.

Concluding a diagnosis

There are options for the next step depending on the outcome of a genetic test:8,9

  • Confirmation of clinical diagnosis – refer to an IRD specialist (Referral Network)
  • Genetic test includes RPE65refer to an IRD specialist or genetic testing service (Referral Network)
  • Assessment at a Luxturna Treatment Centre – refer to a Treatment Centre

Your local centre will be able to assist with any part of the diagnosis. For further confirmation of diagnosis and/or eligibility for Luxturna, please contact your local commissioned treatment centre.

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Number 4 in a circle.

Connect with a commissioned Luxturna Treatment Centre

Did you know 90% of IRD patients are interested in having a genetic test?12

IRD, inherited retinal dystrophy; LCA, Leber congenital amaurosis; RP, retinitis pigmentosa; RPE, retinal pigment epithelium.


  1. Novartis Pharmaceuticals UK Ltd. Luxturna® (voretigene neparvovec) Summary of Product Characteristics.
  2. French National Plan for Rare diseases 2018-2022. [Accessed March 2023].
  3. Méjécase C et al. Ther Adv Ophthalmol 2020;22(12):2515841420954592.
  4. NICE. Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations. 2019. Available at: [Accessed March 2023].
  5. RetNet: Summaries. 2023. Available at: [Accessed March 2023].
  6. NHS. 2021/2022 National Genomic Test Directory. 2021. Available at: [Accessed March 2023].
  7. American Academy of Ophthalmology®, IRD Clinical Statement. 2022. Available at: [Accessed March 2023].
  8. Sodi A et al. Orphanet J Rare Dis 2021;16,257.
  9. Royal College of Ophthalmologists. Ophthalmic Services Guidance. Genomic Services. 2020. Available at: [Accessed March 2023].
  10. Menghini M et al. Expert Opin Orphan Drugs 2020;8(2–3):67–78.
  11. Chung DC et al. Am J Ophthalmol 2019;199:58–70.
  12. Willis TA et al. Br J Ophthalmol 2013;97(9):1148–1154.
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UK | March 2023 | 270404

Adverse events should be reported. Reporting forms and information can be found at Adverse events should also be reported to Novartis via [email protected] or online through the pharmacovigilance intake (PVI) tool at
If you have a question about the product, please contact Medical Information on 01276 698370 or by email at [email protected]