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Evaluation of Ocular Findings in Pediatric Patients With Neurofibromatosis Type 1
1Department of Ophthalmology, Inonu University Faculty of Medicine, Malatya, Turkey.
Insights
Neurofibromatosis type 1 (NF1) in children commonly causes ocular issues, with Lisch nodules showing significant age and gender variability. Comprehensive eye exams are vital for early NF1 diagnosis and vision preservation.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder with diverse clinical manifestations.
- Ocular abnormalities are frequent in children with NF1, impacting visual health.
- Understanding the incidence and variability of these manifestations is crucial for patient management.
Purpose of the Study:
- To evaluate the incidence and variability of ocular manifestations in pediatric patients with NF1.
- To analyze refractive errors, amblyopia, and other eye conditions in relation to age and gender.
- To identify key ocular findings that require monitoring in children with NF1.
Main Methods:
- Retrospective analysis of medical records of 71 children (aged 0-18 years) diagnosed with NF1.
- Categorization of patients into age groups: 0-6, 7-12, and 13-18 years.
- Ophthalmologic examinations included cycloplegic refraction, anisometropia, amblyopia assessment, and Lisch nodule evaluation.
Main Results:
- No significant differences were found in the incidence of myopia, hypermetropia, astigmatism, anisometropia, amblyopia, optic glioma, strabismus, or ptosis based on age and gender.
- A statistically significant difference was observed in the presence of iris Lisch nodules concerning age and gender (P < .05).
- Ocular findings were common among the 71 evaluated pediatric NF1 patients.
Conclusions:
- Pediatric patients with NF1 frequently exhibit ocular manifestations.
- Comprehensive ophthalmologic examinations are essential for early detection and management of NF1-related eye conditions.
- Timely diagnosis and treatment are critical for improving the clinical course and preserving vision in children with NF1.
Abstract:
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.
