Article
Molecular genetics of Leber congenital amaurosis.
Human molecular genetics - 15 May 2002
Cremers Frans P M, van den Hurk José A J M, den Hollander Anneke I
Abstract excerpt
Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together account for approximately half of all LCA patients. These genes are expressed preferentially in the retina or the retinal pigment epithelium. Their putative functions are quite diverse and include...
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