---
title: Neurocutaneous syndrome
description: "Neurocutaneous syndromes are a group of genetic disorders involving both the nervous system and skin, such as neurofibromatosis, tuberous sclerosis, and Sturge-Weber. Many have important ocular features. ## Ocular involvement Eye findings vary by syndrome but often help with diagnosis.…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/neurocutaneous-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Neurocutaneous syndrome

Neurocutaneous syndromes are a group of genetic disorders involving both the nervous system and skin, such as neurofibromatosis, tuberous sclerosis, and Sturge-Weber. Many have important ocular features.

## Ocular involvement

Eye findings vary by syndrome but often help with diagnosis.

- Lisch nodules and optic pathway gliomas in neurofibromatosis type 1
- Retinal astrocytic hamartomas in tuberous sclerosis
- Choroidal haemangiomas and glaucoma in Sturge-Weber syndrome
- Cutaneous markers such as café-au-lait spots or port-wine stains

## Management

Care is multidisciplinary and lifelong.

- Regular ophthalmic exams to monitor vision, refraction, and tumours
- Neurology and dermatology input for systemic manifestations
- Timely treatment of complications like glaucoma or retinal tumours
- Genetic counselling and family screening where appropriate