Leber Congenital Amaurosis (LCA) is a group of debilitating inherited retinal diseases that cause retinal degeneration and eventual blindness in children. 1 About 20% of LCA cases are caused by mutations in the centrosomal 290 kDa (CEP290) gene. 1 Mutations in this gene have been associated with a broad spectrum of diseases, ranging from neonatal lethal syndromes to retina-only phenotypes. [2][3][4][5][6][7][8][9] The most common retinal phenotype caused by mutations in this gene is LCA, with the commonest mutation being a mutation in intron 26 (c.2991 + 1655A > G) that creates a strong splice donor site, leading to the introduction of a cryptic exon in the CEP290 transcript. 10 The additional
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