Abstract

Objective: To document the prevalence of refractive errors in patients with neurofibromatosis type 1 (NF1) and type 2 (NF2) and to compare it with that of age- and sex-matched controls.

Methods: 82 patients with NF1, 21 patients with NF2 and 103 age- and sex-matched controls were evaluated in this prospective observational case–control study. Cycloplegic autorefraction and dilated fundus examination were performed. Myopia was defined as the spherical equivalent refraction of at least −0.50 diopters (D), hyperopia as the spherical equivalent refraction of at least 2.0 D and astigmatism as the cylinder of at least 1.0 D. Main outcome measures were refractive error, IQ, years of education, height, weight and body mass index (BMI).

Results: The prevalence of myopia was 23.1% in patients with NF1, 23.8% in patients with NF2 and 16.5% in age- and sex-matched controls. These differences were significant (p<0.03, p<0.03), and adjusting for intelligence, education, height, weight and BMI increased the significance of this finding (p<0.001, p<0.001). The prevalences of astigmatism and hyperopia were similar in both groups.

Conclusion: A high prevalence of myopia seems to be an additional feature of NF1 and NF2.