Gene Therapy for Leber Congenital Amaurosis

  • Nadine S. Dejneka
  • Enrico M. Surace
  • Jean Bennett
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 533)


Leber congenital amaurosis (LCA) accounts for 5% of all inherited retinal dystrophies (Foxman et al., 1985; Kaplan et al., 1990), causing blindness in infants (Leber, 1869). Children are diagnosed before one year of age and present with impaired vision or total blindness, a normal fundus exam and a severely depressed or absent electroretinogram (ERG) (Foxman et al., 1985). Nystagmus, eye poking and hyperopia are also often observed (Franceschetti and Forni, 1958; Wagner et al., 1985). Over time, visual acuity, visual field and the ERG generally remain constant; however, fundus abnormalities begin to develop. These can include salt-and-pepper pigmentation, bone spicule pigment, an attenuation of retinal vessels and atrophy of the retinal pigment epithelium (RPE) and choriocapillaris (Perrault et al., 1999).


Hydrolysis Attenuation Hydrocarbon Retina Hunt 


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Copyright information

© Springer Science+Business Media New York 2003

Authors and Affiliations

  • Nadine S. Dejneka
  • Enrico M. Surace
  • Jean Bennett
    • 1
  1. 1.University of PennsylvaniaScheie Eye InstitutePhiladelphiaUSA

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