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 mutations 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
