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Article

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.

Ophthalmology - 1 Mar 2003

Milam Ann H, Barakat Mark R, Gupta Nisha, Rose Linda, Aleman Tomas S, Pianta Michael J, Cideciyan Artur V, Sheffield Val C, Stone Edwin M, Jacobson Samuel G

Abstract excerpt

PURPOSE: To study the retinal degeneration in an 11 -year-old patient with Leber congenital amaurosis (LCA) caused by mutation in GUCY2D. STUDY DESIGN: Comparative human tissue study. PARTICIPANTS: Two subjects with LCA; postmortem eye from one LCA patient and three normal donors. METHODS: Clinical and visual function studies were performed between the ages of 6 and 10 years in the LCA eye donor and at age 6 in...

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Identifiers

PMID: 12623820
DOI: 10.1016/S0161-6420(02)01757-8

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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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