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
