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GETTING STARTEDGenetically test patients for RPE65 gene mutations

One day, the doctor in Boston called him and said, ‘We’ve located the gene that’s your problem.’ Something I thought was not going to be possible for Shawn was actually going to happen…I was ecstatic.

– Lisa, Shawn’s mom

To determine if LUXTURNA® treatment MAY BE appropriate, first confirm the presence of biallelic RPE65 gene mutations1

To determine if treatment with LUXTURNA may be appropriate, your patients need to have a definite diagnosis of biallelic RPE65 gene mutation(s) through genotyping. Symptoms may differ depending on when a patient presents with biallelic RPE65 mutation–associated retinal dystrophy. The hallmark of this disease is rod dysfunction that leads to night blindness (the inability to see in dim lighting) in almost all patients. Take a look below for some symptoms commonly associated with biallelic RPE65 gene mutations.2-5

Adolescents & Adults

  • Nyctalopia6
  • Prolonged dark adaptation7
  • Peripheral visual field loss6
  • Severely reduced/undetectable electroretinography (ERG)7
  • Severe loss of visual acuity (≥20/200)7

Not actual patient.

Young children*

  • Nyctalopia2
  • Nystagmus8
  • Prolonged dark adaptation9
  • Reduced ERG8
  • Failure to fix and follow8
  • Sensitivity to light2
  • Mild loss of visual acuity (<20/200)2

*LUXTURNA is not recommended for children under 12 months of age.

Actual patient.

These symptoms are not exclusive to RPE65 mutation–associated retinal dystrophy, which is why genotyping is the only way to reach a definitive diagnosis2-5

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Warnings and Precautions

  • Endophthalmitis may occur following any intraocular surgical procedure or injection. Use proper aseptic injection technique when administering LUXTURNA, and monitor for and advise patients to report any signs or symptoms of infection or inflammation to permit early treatment of any infection.
  • Permanent decline in visual acuity may occur following subretinal injection of LUXTURNA. Monitor patients for visual disturbances.
  • Retinal abnormalities may occur during or following the subretinal injection of LUXTURNA, including macular holes, foveal thinning, loss of foveal function, foveal dehiscence, chorioretinal atrophy, and retinal hemorrhage. Monitor and manage these retinal abnormalities appropriately. Do not administer LUXTURNA in the immediate vicinity of the fovea. Retinal abnormalities may occur during or following vitrectomy, including retinal tears, epiretinal membrane, or retinal detachment. Monitor patients during and following the injection to permit early treatment of these retinal abnormalities. Advise patients to report any signs or symptoms of retinal tears and/or detachment without delay.
  • Increased intraocular pressure may occur after subretinal injection of LUXTURNA. Monitor and manage intraocular pressure appropriately.
  • Expansion of intraocular air bubbles Instruct patients to avoid air travel, travel to high elevations or scuba diving until the air bubble formed following administration of LUXTURNA has completely dissipated from the eye. It may take one week or more following injection for the air bubble to dissipate. A change in altitude while the air bubble is still present can result in irreversible vision loss. Verify the dissipation of the air bubble through ophthalmic examination.
  • Cataract Subretinal injection of LUXTURNA, especially vitrectomy surgery, is associated with an increased incidence of cataract development and/or progression.

Adverse Reactions

  • In clinical studies, ocular adverse reactions occurred in 66% of study participants (57% of injected eyes), and may have been related to LUXTURNA, the subretinal injection procedure, the concomitant use of corticosteroids, or a combination of these procedures and products.
  • The most common adverse reactions (incidence ≥5% of study participants) were conjunctival hyperemia (22%), cataract (20%), increased intraocular pressure (15%), retinal tear (10%), dellen (thinning of the corneal stroma) (7%), macular hole (7%), subretinal deposits (7%), eye inflammation (5%), eye irritation (5%), eye pain (5%), and maculopathy (wrinkling on the surface of the macula) (5%).


Immune reactions and extra-ocular exposure to LUXTURNA in clinical studies were mild. No clinically significant cytotoxic T-cell response to either AAV2 or RPE65 has been observed. In clinical studies, the interval between the subretinal injections into the two eyes ranged from 7 to 14 days and 1.7 to 4.6 years. Study participants received systemic corticosteroids before and after subretinal injection of LUXTURNA to each eye, which may have decreased the potential immune reaction to either AAV2 or RPE65.

Pediatric Use

Treatment with LUXTURNA is not recommended for patients younger than 12 months of age, because the retinal cells are still undergoing cell proliferation, and LUXTURNA would potentially be diluted or lost during the cell proliferation. The safety and efficacy of LUXTURNA have been established in pediatric patients. There were no significant differences in safety between the different age subgroups.

Please see the US Full Prescribing Information for LUXTURNA.


LUXTURNA (voretigene neparvovec-rzyl) is an adeno-associated virus vector-based gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.

Patients must have viable retinal cells as determined by the treating physicians.


1. LUXTURNA [package insert]. Philadelphia, PA: Spark Therapeutics, Inc; 2022. 2. Chacon-Camacho OF, Zenteno JC. Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases. 2015;3(2):112-124. doi:10.12998/wjcc.v3.i2.112. 3. Lee K, Garg S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet Med. 2015;17(4):245-252. doi:10.1038/gim.2015.15. 4. Chung DC, Bertelsen M, Lorenz B, et al. The natural history of inherited retinal dystrophy due to biallelic mutations in the RPE65 gene. Am J Ophthalmol. 2019;199:58-70. doi:10.1016/j.ajo.2018.09.024. 5. Nash BM, Wright DC, Grigg JR, Bennetts B, Jamieson RV. Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Transl Pediatr. 2015;4(2):139-163. doi:10.3978/j.issn.2224-4336.2015.04.03. 6. MedlinePlus, US National Library of Medicine, National Institutes of Health. Retinitis pigmentosa. Updated August 18, 2020. Accessed January 21, 2022. 7. Fahim AT, Daiger SP, Weleber RG. Nonsyndromic retinitis pigmentosa overview. Gene Reviews [serial online]. Updated January 19, 2017. Accessed January 21, 2022. 8. Cideciyan AV. Leber congential amaurosis due to RPE65 mutations and its treatment gene therapy. Prog Retin Eye Res. 2010;29(5):398-427. doi:10.1016/j.preteyeres.2010.04.002. 9. Felius J, Thompson DA, Khan NW, et al. Clinical course and visual function in a family with mutations in the RPE65 gene. Arch Ophthalmol. 2002;120(1):55-61. doi:10.1001/archopht.120.1.55.