Abstract
Leber congenital amaurosis (LCA, MIM 204000) is the earliest and most severe form of all hereditary retinal dystrophies, responsible for congenital blindness. Its frequency, estimated until recently to 5% of all inherited retinal dystrophies1, has been re-evaluated as some LCA cases might represent the extreme end of a spectrum of severity of retinal dystrophies.2–4
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References
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Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Rozet, JM., Kaplan, J. (2006). Leber Congenital Amaurosis: Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition and Phenotype-Genotype Correlations as a Strategy for Molecular Diagnosis. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 572. Springer, Boston, MA. https://doi.org/10.1007/0-387-32442-9_3
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DOI: https://doi.org/10.1007/0-387-32442-9_3
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