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amaurosis congenita of Leber

Pronunciation: lā′bĕr

Definition: a disorder of cone-rod abiotrophy causing blindness or severely reduced vision at birth; autosomal recessive inheritance with at least three different loci. Type I is caused by mutation in the gene for retinal guanylate cyclase (GUC2D) on chromosome 17p, type II by mutation in the gene for retinal pigment epithelium–specific 65-kD protein (RPE65) on 1p, and type III by mutation in the gene for photoreceptor-specific homeobox gene CRX on 19q.

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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