The Phakomatoses

The three conditions - Von Recklinghausen's neurofibromatosis, tuberose sclerosis (Bourn-ville's disease) and Von Hippel-Lindau disease -are classed together under this name. They all involve the eye but might not become evident until later life. Often, examination of the eye reveals the diagnosis. In Von Recklinghausen's neurofibromatosis, multiple neuro-fibromata are seen on the skin, and the eyelids may be enlarged and distorted. Gliomata can develop in the optic nerves and scattered pigment "cafe au lait" patches are seen in the skin. Brown nodules can be seen on the iris. In tuberose sclerosis, mental deficiency and epilepsy are associated with a raised nodular rash on the cheeks and mulberry-like tumours in the optic fundus. Von Hippel-Lindau disease presents to the ophthalmologist as angiomatosis retinae. Vascular tumours appear in the peripheral retina, which can leak and expand and lead to detachment of the retina. Similar tumours can be present intracranially.

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