Abstract
Leber's Congenital Amaurosis (LCA, MIM204000) accounts for at least 5% of all inherited retinal disease and is the most severe form of inherited retinal dystrophy, responsible for congenital blindness with the earliest age of onset. It is diagnosed at birth or in the first few months of life because of severely impaired vision or blindness, pendular nystagmus, eye poking and an abnormal or extinguished electroretinogram (ERG)(Kaplan et al., 1990). At birth the fundi of most patients with LCA appear normal, although fundus changes characteristic of retinitis pigmentosa may develop later during the course of the disease (Perrault et al., 1996). Both clinical and genetic heterogeneity in LCA have been demonstrated, currently identified mutations occuring in genes coding for photoreceptor-specific retinal guanylate cyclase 1 (RetGC-1) (LCA1), RPE-specific RPE65 (LCA2), photoreceptor-specific cone rod homeobox (Crx) transcription factor (LCA3), photoreceptor-pineal gene-specific aryl interacting-like protein 1 (AILP1) (LCA4), retinitis pigmentosa GTPase regulator interacting protein (RPGRIP1) (LCA5) and Crumbs homologue 1 (CRB1). Additional genes involved in this group of diseases remain to be identified.
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© 2003 Springer Science+Business Media New York
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Porto, F.B.O. et al. (2003). Prenatal Human Ocular Degeneration Occurs in Leber’s 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_8
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DOI: https://doi.org/10.1007/978-1-4615-0067-4_8
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