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Abstract

The most common Phakomatoses are divided into two groups following the long standing classification made by Brower and Van der Hoeve. The first group is of neuroectodermal origin affecting mainly the nervous system and the second is of mesodermal origin attacking preferentially the circulatory apparatus. After a succinct historical outline and review of the close link demonstrated between Ophthalmology and others medical specialties, the author puts forth a detailed description of Von Recklinghausen ́s disease (multiple neurofibromatosis) and Tuberous Sclerosis (Bourneville disease) as primary representatives of the first group. In the second group we have Sturge-WeberKrabbe, also called cerebro-trigeminal angiomatosis or meningo-cutaneus or encephalo-trigeminal and Von Hippel-Lindau ́s disease also known as retino-cerebellar angioglioblastomatosis. The several diagnostic tools and different treatments of these complex pathologies are explained. All the entities of mesodermal origin have better ocular prognoses. After describing the latest developments in Biochemistry, Molecular and Cellular Biology and pointing out the possible autoimmune genesis of Phakomatoses, there is optimism for future therapies employing stem cells.