Evaluation of Ocular Findings in Pediatric Patients With Neurofibromatosis Type 1

PurposeEvaluation of the incidence and variability of ocular manifestations in children with neurofibromatosis type 1.MethodsIn 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.ResultsOf 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 (<i>P</i> = .878), hypermetropia (<i>P</i> = .329), myopia astigmatism (<i>P</i> = .761), hypermetropia astigmatism (<i>P</i> = .457), mixed astigmatism, anisometropia (<i>P</i> = .836), amblyopia (<i>P</i> = .551), emmetropia (<i>P</i> = .234), optic glioma (<i>P</i> = .598), strabismus (<i>P</i> = .219), and ptosis (<i>P</i> = .099) showed no significant difference (<i>P</i> > .05). A statistically significant difference was observed in the Lisch nodule, one of the ocular examination findings, according to age and gender (<i>P</i> < .05).ConclusionsPediatric 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.