---
title: Neurofibromatosis type 1 (NF1)
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/neurofibromatosis-type-1-nf1/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Neurofibromatosis type 1 (NF1)

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