Usefulness of Systematic Ophthalmologic Investigations in Neurofibromatosis 1: A Cross-Sectional Study of 211 Patients

Abstract

Purpose

To evaluate the usefulness of ophthalmologic examination for diagnosis and for detection of complications in adult patients with neurofibromatosis 1.

Methods

Patients with at least one criterion of neurofibromatosis 1 (excluding ophthalmologic criteria) seen at a referral centre had a systematic ophthalmologic examination including best-corrected visual acuity, slit-lamp examination and dilated funduscopy. The ophthalmologist was unaware of all other anamnestic data.

Results

Patients: 211 patients with NF1 were included (mean age: 32 ± 14 yr.). Ophthalmologic examination in neurofibromatosis 1 patients: Lisch nodules (n = 185) (87.7%); choroidal hamartomas (n = 61) (29%); enlarged corneal nerves (n =1); 3 plexiform neurofibromas (n = 3); symptomatic optic pathway gliomas (n = 5). Diagnostic contribution of presence of Lisch nodules: 6 (3%) of 211 patients. Detection of complications: none.

Conclusions

In adult patients with neurofibromatosis 1, the contribution of ophthalmologic examination to diagnosis and to the detection of complications is low. Ophthalmologic examination should be performed in patients for whom questioning and clinical examination failed to give evidence of NF1 or to determine the NF subtypes.