We welcome the study by Wolkenstein et al1 of the usefulness of screening investigations in neurofibromatosis type 1 (NF1). Because of the high incidence of NF1 (up to 1 case in 2500 births), this work is of great practical significance for the practicing dermatologist. We have performed similar work2 to evaluate the necessity of screening for the presence of optic glioma at the time of diagnosis of NF1 (Figure 1). In this study, our aims were to define the prevalence and clinical significance of optic gliomas in patients presenting to the Dermatology Outpatient Department, Beaumont Hospital, Dublin, Ireland, to determine what proportion of gliomas were symptomatic and to evaluate screening modalities. In addition, the patients with optic gliomas detected by screening were followed up closely for 5 years.
Standard diagnostic criteria for NF1 were applied.1 Any symptoms of diplopia, headache, seizure, neurologic deficit, or visual deterioration were
O'Connor WJ, Murphy GM. Screening in Neurofibromatosis Type 1. Arch Dermatol. 1997;133(5):655-656. doi:10.1001/archderm.1997.03890410119020