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

21 Dec 2018

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...

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PMID: 30576320
DOI: 10.1371/journal.pone.0205380

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