Improvement and decline in vision with gene therapy in childhood blindness

N Engl J Med. 2015 May 14;372(20):1920-6. doi: 10.1056/NEJMoa1412965. Epub 2015 May 3.


Retinal gene therapy for Leber's congenital amaurosis, an autosomal recessive childhood blindness, has been widely considered to be safe and efficacious. Three years after therapy, improvement in vision was maintained, but the rate of loss of photoreceptors in the treated retina was the same as that in the untreated retina. Here we describe long-term follow-up data from three treated patients. Topographic maps of visual sensitivity in treated regions, nearly 6 years after therapy for two of the patients and 4.5 years after therapy for the third patient, indicate progressive diminution of the areas of improved vision. (Funded by the National Eye Institute; number, NCT00481546.).

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Disease Progression
  • Follow-Up Studies
  • Genetic Therapy*
  • Humans
  • Leber Congenital Amaurosis / genetics
  • Leber Congenital Amaurosis / pathology
  • Leber Congenital Amaurosis / therapy*
  • Mutation
  • Photoreceptor Cells, Vertebrate / pathology*
  • Retina / physiology*
  • Vision, Ocular
  • Young Adult

Associated data