Patient visual behavior following treatment with rAAV2/8.hRKp.AIPL1

  • Children with AIPL1 deficiency typically have only light perception vision and so are unable to perform any vision-guided tasks. After treatment, the child performs vision guided tasks
  • This improvement will transform their life, given that vision impacts many areas of development; children who are profoundly visually impaired often suffer other negative implications on their behavioral, emotional and communication development

Patient 5, male, OS, c.834G>A, p.(Trp278*) hom

Pre-treatment

16 days post-treatment


Patient 1, female, OD, c.465+1G>C hom

1 year post-treatment

3.4 years post-treatment


Patient 2, female, OS, c.834G>A p.(Trp278Ter) hom

2.3 years post-treatment

3.4 years post-treatment

3.4 years post-treatment


Patient 3, male, OS, c.834G>A p.(Trp278Ter) hom

2.3 years post-treatment