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Article

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 2002

Koenekoop Robert K, Fishman Gerald A, Iannaccone Alessandro, Ezzeldin Hany, Ciccarelli Maria L, Baldi Alfonso, Sunness Janet S, Lotery Andrew J, Jablonski Monica M, Pittler Steven J, Maumenee Irene

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is an infrequently encountered congenital form of retinitis pigmentosa with marked genetic and clinical heterogeneity. Thus far, 10 genes have been identified in this disorder since 1996. In the future, LCA may become treatable by gene and/or pharmacological intervention, and these therapies will likely be gene specific, giving major significance to rapid gene...

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PMID: 12365911
DOI: 10.1001/archopht.120.10.1325

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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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