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Article

Neurofibromatosis Type 1 (NF1)-Related Ocular Signs: New Insights on Their Prevalence, Incidence, and Genotype-Phenotype Correlation in NF1 Children.

American journal of ophthalmology - 1 Jul 2025

Midena Edoardo, Cosmo Eleonora

Abstract excerpt

PURPOSE: To assess, in a large pediatric population affected by neurofibromatosis type 1 (NF1), the prevalence, incidence, age of onset, and genotype correlation of the main NF1-related ocular signs, including optic pathway glioma (OPG), Lisch nodules (LNs), choroidal abnormalities (CAs), and retinal vascular abnormalities (RVAs). METHODS: NF1 patients ≤16 years old followed at our institution between 2010 and...

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Identifiers

PMID: 40054547
DOI: 10.1016/j.ajo.2025.02.044

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NF1

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