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Article

An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

PloS one - 1 Jan 2019

Chen Andrew T, Brady Lauren, Bulman Dennis E, Sundaram Arun N E, Rodriguez Amadeo R, Margolin Edward, Waye John S, Tarnopolsky Mark A

Abstract excerpt

PURPOSE: To assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA). DESIGN: Retrospective cohort study. METHODS: 97 patients were referred to the McMaster University Medical Center (Hamilton, Ontario) for evaluation of bilateral OA. All patients were sent for NGS including a 22 nuclear gene panel and/or complete mitochondrial DNA (mtDNA) sequencing....

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Identifiers

PMID: 31765440
DOI: 10.1371/journal.pone.0225656
PMCID: PMC6876833

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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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