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Article

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

Investigative ophthalmology & visual science - 1 May 2010

Pasadhika Sirichai, Fishman Gerald A, Stone Edwin M, Lindeman Martin, Zelkha Ruth, Lopez Irma, Koenekoop Robert K, Shahidi Mahnaz

Abstract excerpt

PURPOSE: To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT). METHODS: SD-OCT macular scans were performed in 21 patients, including 10 with RPE65, 7 with CEP290, 3 with GUCY2D, and 1 with AIPL1 mutations. An image processing software was used to manually...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19959640
DOI: 10.1167/iovs.09-3734
PMCID: PMC2868490

Genes

RPE65
AIPL1

Provenance

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