Identify appropriate patients for genetic testing:
- Patients with a diagnosis of LCA, RP or other IRDs that exhibit the signs and symptoms of a rod-cone IRD (night blindness, poor dark adaptation, reduced VF and VA)2,3
Confirm your patient has biallelic RPE65 gene mutations4–6
- Gain consent and refer your patient for a genetic test to confirm biallelic RPE65 mutations
- Each examination should include segregation analysis (parental testing) or detection of biallelic mutations.
Connect your patient with a commissioned Luxturna Treatment Centre
1. Patient meets criteria for suspected IRD
- Patient displays symptoms including:
Difficulty withdark adaptation2,10,11
Loss of visual acuity2,10,11
- Or has a diagnosis of a rod-cone inherited retinal dystrophy.10
2. Once your patient is suspected for an IRD, consider ordering an RPE65 genetic test.4–6
- Did you know? 90% of IRD patients are interested in a genetic test.17
Genetic testing provides more information about your patient’s IRD.3
- Refines diagnosis and prognosis, allows assessment of eligibility for treatment, and eligibility for Luxturna, observational or interventional clinical trials.3,18
Genetic testing RPE65-IRDs
Genetic diagnosis could identify patients with RPE65 mutations and can give them the opportunity to be assessed for eligibility for gene therapy.
• Multi-gene testing is appropriate for correct molecular diagnosis as there are >270 genes implicated in IRDs.19
• Any genetic test ordered must include RPE65 if RPE65 biallelic mutation is suspected.
• Parents should be tested for segregation as this allows confirmation of the biallelic mutation status.3,17,20
Concluding your patient's diagnosis
a. Confirmation of their clinical diagnosis – Refer to an IRD specialist (Referral Network).
b. A genetic test that includes RPE65 – Refer to an IRD specialist or genetic testing service (Referral Network).
c. Assessment at a Luxturna Treatment Centre – Refer to a Treatment Centre.
Collaborate with your local centre for any part of the diagnosis. For further confirmation of diganosis and/or eligibility for Luxturna, please contact your local commissioned treatment centre.
ERG, electroretinography; IRD, inherited retinal dystrophy; LCA, Leber congenital amaurosis; RP, retinitis pigmentosa; RPE, retinal pigment epithelium, VA, visual acuity; VF, visual field.
Indication: Luxturna 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
- Luxturna SmPC, 2020.
- Chung DC et al. Am J Ophthalmol 2019;199:58–70.
- American Academy of Ophthalmology®, IRD Clinical Statement. 2016. Available at: https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients (Accessed August 2020).
- NHS. National genomic test directory. 2019. Available at: https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-eligibility-criteria-march-19.pdf (Accessed August 2020).
- Stone EM et al. Ophthalmology 2012;119:2408–2410.
- Claustres M et al. EurJ Hum Genet 2014;22:160–170.
- Hamblion E et al. Investig Ophthalmol Vis Sci 2011;52:7981–7986.
- Senthil M et al. JPRO 2017;1(1):15.
- Henderson R. Paediatrics and Child Health 2020;30:19–27.
- Sahel JA et al. Cold Spring Harb Perspect Med 2015;5(2):a017111.
- Di Iorio V et al. Genes 2017;8:280–297.
- Fahim AT et al. Nonsyndromic Retinitis Pigmentosa Overview. 2000. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1417/ (Accessed August 2020).
- GeneReviews. RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy. 2019. Available at: https://www.ncbi.nlm.nih.gov/books/NBK549574/ (Accessed August 2020).
- Russell S et al. Lancet 2017;390(10097):849–860.
- Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations. Highly specialised technologies guidance [HST11]. Available at: https://www.nice.org.uk/guidance/hst11/chapter/2-The-condition (Accessed August 2020).
- Orphanet. 2019. Available at: www.orpha.net (Accessed August 2020).
- Willis TA et al. Br J Ophthalmol 2013;97(9):1148–1154.
- Retina Today. Genetic testing as a new standard of care. 2018. Available at: https://retinatoday.com/articles/2018-sept/genetic-testing-as-a-new-standard-of-care (Accessed August 2020).
- RetNet: Summaries. 2019. Available at: https://sph.uth.edu/retnet/sum-dis.htm (Accessed August 2020).
- Moosajee M et al. Eur J Hum Genet 2014;22:e1–e4.