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Retinal Degenerations pp 415–422Cite as

Gene Therapy for Leber Congenital Amaurosis

  • Conference paper

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 533))

Abstract

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).

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Authors and Affiliations

  1. University of Pennsylvania, Scheie Eye Institute, Philadelphia, PA 19104-6069, USA

    Jean Bennett

Authors
  1. Nadine S. Dejneka
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  2. Enrico M. Surace
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  3. Jean Bennett
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Editors and Affiliations

  1. Beckman Vision Center, University of California, San Francisco, California, USA

    Matthew M. LaVail

  2. Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, Ohio, USA

    Joe G. Hollyfield

  3. Dean A. McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

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Dejneka, N.S., Surace, E.M., Bennett, J. (2003). Gene Therapy for Leber Congenital Amaurosis. In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Retinal Degenerations. Advances in Experimental Medicine and Biology, vol 533. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0067-4_53

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