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 (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).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.