Article

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

2018-09-26

Abstract excerpt

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies (IRD) and the most frequent cause of inherited blindness in children. The phenotypic overlap with other early-onset and severe IRDs as well as difficulties associated with the ophthalmic examination of infants can complicate the clinical diagnosis. To date, 25 genes have been implicated in the pathogenesis of...

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Literature Corpus work: 783b5956-b2bf-5216-bc59-9f58dd1f7657
DOI: 10.1101/428177

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