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147: Leber congenital amaurosis: Clinical course, phenotype/genotype correlations, clinical trials update and future directions

✍ Scribed by Elias I. Traboulsi; Daniel C. Chung

Book ID: 116590491
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 40 KB
Volume: 13
Category: Article
ISSN: 1528-3933
DOI: 10.1016/j.jaapos.2008.12.158

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Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the re