Leber congenital amaurosis 4


Amaurosis congenita of Leber, type 4
Leber congenital amaurosis type 4


Leber congenital amaurosis 4 (LCA4) is a rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 4 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, AIPL1 gene.


  • Retinal dysfunction
  • Nystagmus
  • Blindness
  • Sensitivity to light
  • Impaired vision
  • Slow pupil response