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 1, female, right eye (OD), c.465+1G>C hom
Age at time of treatment: 2y 7m

Patient 2, female, left eye (OS), c.834G>A p.(Trp278Ter) hom
Age at time of treatment: 2y 10m

Patient 3, male, left eye (OS), c.834G>A p.(Trp278Ter) hom
Age at time of treatment: 12m

Patient 4, male, left eye (OS), c.618_619dupCT p.(Cys207Serfs*3) c.265T>C p.(Cys189ARG)
Age at time of treatment: 2y

Patient 5, female, both eyes, c.465G>A p.(Gln155His) hom
Age at time of treatment: 3y 2m

Patient 6, male, both eyes, c.834G>A p.(Trp278Ter) hom
Age at time of treatment: 3y 7m

Patient 7, male, right eye (OD), c.834G>A p.(Trp278Ter) hom
Age at time of treatment: 2y 4m

Patient 8, male, left eye (OS), c.834G>A p.(Trp278Ter) hom
Age at time of treatment: 3y 2m