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Article

Leber congenital amaurosis caused by mutations in GUCY2D.

Cold Spring Harbor perspectives in medicine - 25 Sept 2014

Boye Shannon E

Abstract excerpt

Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous group of diseases that account for the most severe form of early-onset retinal dystrophy. Mutations in retinal guanylate cyclase-1 (GUCY2D) are associated with LCA1, a prevalent form. GUCY2D encodes guanylate cyclase-1 (GC1), a protein expressed in rod and cone photoreceptors that regulates cGMP and Ca(2+) levels within these cells....

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Identifiers

PMID: 25256176
DOI: 10.1101/cshperspect.a017350
PMCID: PMC4292079

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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