Neurofibromatosis type 1 is a common autosomal dominant disorder causing café-au-lait spots, neurofibromas, and other tumours. The eyes provide important diagnostic clues.
Ocular features
Characteristic signs often appear in childhood.
- Lisch nodules iris hamartomas visible on slit-lamp exam
- Optic pathway gliomas that may cause vision loss or proptosis
- Plexiform neurofibromas of lids causing ptosis and amblyopia
- Choroidal nodules visible on special imaging
Management
Care is multidisciplinary with lifelong surveillance.
- Regular ophthalmic screening for visual acuity, fields, and optic nerve status
- MRI monitoring of optic pathway tumours when indicated
- Management of amblyopia, refractive errors, and eyelid masses
- Genetic counselling and systemic monitoring for other NF1 complications
