Evaluation of Ocular Findings in Pediatric Patients With Neurofibromatosis Type 1

dc.contributor.authorDemir, Ulku
dc.date.accessioned2026-04-04T13:33:14Z
dc.date.available2026-04-04T13:33:14Z
dc.date.issued2026
dc.departmentİnönü Üniversitesi
dc.description.abstractPurpose: Evaluation of the incidence and variability of ocular manifestations in children with neurofibromatosis type 1. Methods: In this study, the files of 71 children aged 0-18 years with neurofibromatosis type 1 were retrospectively analyzed. Child age groups were categorized as 0-6, 7-12, and 13-18 years. In cycloplegic refractive examination, >=-0.50 Diopter (D) values in spherical equivalents were recorded as myopia, >=+2.0 D as hypermetropia, and >=+/- 1.0 D cylindrical values as astigmatism. Patients with a difference of >= 1 D in spherical or cylindrical equivalents between the 2 eyes were considered anisometropic. Amblyopia was defined as a best-corrected visual acuity <= 0.8 with Snellen chart and a difference of at least 2 lines between both eyes. The presence of 2 or more iris Lisch nodules (iris hamartoma) was considered positive. Results: Of the 71 patients whose ocular findings were evaluated, 32 (45.1%) were boys and 39 (54.9%) were girls. According to age and gender, myopia (P = .878), hypermetropia (P = .329), myopia astigmatism (P = .761), hypermetropia astigmatism (P = .457), mixed astigmatism, anisometropia (P = .836), amblyopia (P = .551), emmetropia (P = .234), optic glioma (P = .598), strabismus (P = .219), and ptosis (P = .099) showed no significant difference (P > .05). A statistically significant difference was observed in the Lisch nodule, one of the ocular examination findings, according to age and gender (P < .05). Conclusions: Pediatric patients with neurofibromatosis type 1, with common ocular manifestations, should undergo a comprehensive ophthalmologic examination. Early diagnosis and treatment are crucial for improving the clinical course of the disease and preserving vision.
dc.identifier.doi10.1177/08830738251382296
dc.identifier.endpage402
dc.identifier.issn0883-0738
dc.identifier.issn1708-8283
dc.identifier.issue3
dc.identifier.pmid41069021
dc.identifier.scopus2-s2.0-105019186706
dc.identifier.scopusqualityQ1
dc.identifier.startpage396
dc.identifier.urihttps://doi.org/10.1177/08830738251382296
dc.identifier.urihttps://hdl.handle.net/11616/109023
dc.identifier.volume41
dc.identifier.wosWOS:001593132900001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorDemir, Ulku
dc.language.isoen
dc.publisherSage Publications Inc
dc.relation.ispartofJournal of Child Neurology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjecteye findings
dc.subjectLisch nodule
dc.subjectneurofibromatosis type 1
dc.subjectrefractive errors
dc.titleEvaluation of Ocular Findings in Pediatric Patients With Neurofibromatosis Type 1
dc.typeArticle

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