Ocular Findings Of Children With Neurocutaneous Disorders

Ocular findings in children with neurofibromatosis type 1 (NF 1) and tuberous sclerosis (TS) are presented. The study was conducted prospectively and comprised 31children who were referred from pediatric neurology clinic to the ophthalmology clinic. Sixteen of 22 patients with NF1 (72.7%) were male and 6 (27.3%) were female and the mean age was 9.9 ± 4.2 (3-16 years). Two of 9 patients with TS (22.2%) were male and 7 (77.8%) were female, the mean age was 5.5 ± 3.6 (1.5-12 years). Twenty of children with NF1 had cooperation to the snellen chart, the mean visual acuity of the right and left eye were 0.93 ± 0.14 (0.4-1.0) and 0.94 ± 0.14 (0.4-1.0), whereas the mean visual acuity of 7 patients with TS was 0.84 ± 0.22 (0.4-1.0) at the right and 0.85 ± 0.19 (0.5-1.0) at the left eyes. Percentages of myopia, hyperopia and astigmatism in children with NF 1 were 40.9%, 4.5% and 18.1%, respectively. Percentages of myopia, hyperopia, astigmatism in children with TS were 11.1%, 22.2% and 11.1%, respectively. In a NF 1 patient with keratoconus, his visual acuity was 0.4. Also another patient with TS had diminished visual acuity of 0.4 at the right eye and 0.5 at the left eye because of hyperopic astigmatism. Iris Lisch nodules were detected in 14 (63.6%) of children with NF 1. Five cases (22.7%) had bilateral optic glioma, the mean age was 7.6 (3-15 years). All tumors were located at intraorbital and the patients were asymptomatic. Except optic glioma, it was found out that one patient (4.5%) had bilateral myelinated nerve fibers and the other one (4.5%) had bilateral optic atrophy due to previous neurosurgery. Sectorial iris hypopigmentation was determined in one (11.1%) of nine children with TS. Detailed ophthalmic examination has a great importance in patients with TS and NF 1 because of ocular findings which are commonly seen. Patients should be evaluated by ophthalmologists in terms of refractive error and optic glioma.