Authors: J. Otradovec Authors‘ workplace: Oční klinika 1. LF UK a VFN, Praha, přednosta doc. MUDr. M. Filipec, CSc. Published in: Prakt. Lék. 2002; (3): 125-129 Category:
The article is a postgraduate review of the development of phacomatoses and their contemporary state, prepared in particular for general practitioners. After a brief historical introduction the authors remind in particular of diagnostically useful neuroophthalmological symptoms of nosological units which are nowadays included among phacomatoses. They mention also their genetic aspects, prognosis and therapeutic possibilities.
Key words: phacomatoses - Recklinghausen's neurofibromatosis - Bourneville's tuberous sclerosis - retinocerebellar angiomatosis (Hippel-Lindau)
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