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Gene Therapy for Leber Congenital Amaurosis

Conference paper
Part of the Advances in Experimental Medicine and Biology book series (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).

Keywords

Retinal Pigment Epithelium Retinal Pigment Epithelium Cell Retinitis Pigmentosa Guanylate Cyclase Retinal Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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© Springer Science+Business Media New York 2003

Authors and Affiliations

  1. 1.University of PennsylvaniaScheie Eye InstitutePhiladelphiaUSA

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