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WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

22 Apr 2022

Abstract excerpt

OBJECTIVE: To evaluate the pattern of vision loss and genotype-phenotype correlations in WFS1-associated optic neuropathy (WON). DESIGN: Multicenter cohort study. METHODS: The study involved 37 patients with WON carrying pathogenic or candidate pathogenic WFS1 variants. Genetic and clinical data were retrieved from the medical records. Thirteen patients underwent additional comprehensive ophthalmologic...

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PMID: 35469785
DOI: 10.1016/j.ajo.2022.04.003

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