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Article

Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes.

Advances in experimental medicine and biology - 1 Jan 2016

Jacobson Samuel G, Cideciyan Artur V, Huang Wei Chieh, Sumaroka Alexander, Nam Hyun Ju, Sheplock Rebecca, Schwartz Sharon B

Abstract excerpt

Leber congenital amaurosis (LCA) patients of 10 known genotypes (n = 24; age range, 3-25 years) were studied clinically and by optical coherence tomography (OCT). Comparisons were made between OCT results across the horizontal meridian (central 60(o)) of the patients. Three patterns were identified. First, there were LCA genotypes with unusual and readily identifiable patterns, such as near normal outer nuclear...

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PMID: 26427408
DOI: 10.1007/978-3-319-17121-0_23

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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