Genetically Test Patients

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

Clinical diagnoses based on phenotype, such as retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), are not definitive. These diagnoses describe variation in onset, degree of severity, and progression of disease.2-5

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, or 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

Woman smiling Photographs are not of actual patients.

Adolescents & Adults:

  • Nyctalopia7
  • Prolonged dark adaptation8
  • Peripheral visual field loss7
  • Severely reduced/undetectable electroretinography (ERG)8
  • Severe loss of visual acuity (≥20/200)8
Young boy smiling

Young Children*:

  • Nyctalopia2
  • Nystagmus9
  • Prolonged dark adaptation10
  • Reduced ERG9
  • Failure to fix and follow9
  • Sensitivity to light2
  • Mild loss of visual acuity (<20/200)2

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

Graphic icon of test tubes

These symptoms are not exclusive to RPE65
mutation-associated retinal dystrophy, which is why
genotyping is the only way to reach a definitive diagnosis2,3,5