Abstract
The phacomatoses are those disorders characterized by hamartomas (abnormal proliferations of tissue normally found in the involved organs). Van der Hoeve 69 introduced the term phakomatosis (from Gr. phakos: spot, birthmark, mole) in describing the ocular features in neurofibromatosis and tuberous sclerosis and later expanded it to include von Hippel Lindau disease 70 and Sturge-Weber syndrome. In this article, the discussion is limited to those disorders of the most relevance to the ophthalmologist: (1) neurofibromatosis Type I (von Recklinghausen disease) and neurofibromatosis Type II (bilateral acoustic neuroma), (2) tuberous sclerosis, (3) von Hippel-Lindau disease, and (4) Sturge-Weber syndrome (encephalotrigeminal angiomatosis).
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