Determine whom to test

Identify appropriate patients to test

The first step to determine if a patient may be appropriate for treatment with LUXTURNA is to confirm the presence of biallelic RPE65 gene mutations.1

You play an important role in determining appropriate patients for genetic testing. Spark® Therapeutics is committed to providing access to an accurate diagnosis and is offering a free* RPE65 genetic test.

Use the guide below to help determine which patients you may consider for the genetic test.
If you have already identified patients who may be appropriate for this genetic test, order test kits.


Who is a candidate for a free* RPE65 genetic test?

Genetic tests for RPE65 mutations may also be available through a patient’s insurance or third-party foundations.

Does your patient have nyctalopia (which may also include the clinical manifestations listed below), first presenting prior to the age of 45?2-4

  • Nystagmus2,4
  • Prolonged dark adaptation5
  • Diminished visual fields4
  • Severely reduced or undetectable ERG4

Does your patient have any of the following diagnoses in conjunction with nyctalopia, plus any of the clinical manifestations provided on the left?2-4

  • Leber congenital amaurosis (LCA)4,6,7‡
  • Retinitis pigmentosa (RP)4,8‡
  • Severe early childhood-onset retinal dystrophy (SECORD)4,7,8
  • Early-onset severe retinal dystrophy (EOSRD)4,7,8
  • Early childhood-onset retinitis pigmentosa (ECRP)9
If Yes

Have both of the following been ruled out?

1 Diagnosis of or signs/symptoms consistent with any of the following conditions:

  • Stargardt disease7
  • Achromatopsia11
  • Best disease7,10
  • Cone-rod dystrophy7

2 Symptoms in other organ systems, suggesting a syndromic disorder (eg, Usher syndrome)2,7§

If Yes

Think your patient is appropriate for RPE65 genetic testing?


*Participation in the test is subject to the Terms and Conditions.

†Light-seeking behavior (typically under 3 years of age); night blindness or decreased ability to see in dim light (any age).3,7

‡These are the most common diagnoses.4

§Eg, hearing loss, renal impairment, polydactyly, severe brain abnormalities.2,7