Increased prevalence of ametropia in children with neurofibromatosis type 1 disease

Neurofibromatosis type 1 disease is an autosomal dominant disorder associated with numerous ophthalmic and systemic manifestations. Organic causes of visual loss include optic pathway gliomas, orbital plexiform neurofibroma, and glaucoma. In this study, the authors analyzed the prevalence of ametropia as a cause for visual loss in children with neurofibromatosis type 1 disease younger than age 12 years compared to matched controls. Only children with normal neuroimaging were evaluated. Myopia, hyperopia, astigmatism, and anisometropia were all more common in children with neurofibromatosis type 1 disease; however, statistically significant differences were observed in mild myopia and astigmatism alone. A higher need for optical correction was found in children with neurofibromatosis type 1 disease (33.3% vs 17.1% of controls, P = .049). In conclusion, children with neurofibromatosis type 1 disease have a higher prevalence of ametropia, especially mild myopia and astigmatism, often requiring optical correction. Routine refraction screening is recommended for limiting preventable visual loss.