The phakomatoses

Although the phakomatoses are diverse and rare in their occurrence, continued investigation into their genetic basis has broad implications for the pathogenesis of more common malignancies. Understanding the function of mutated genes in neurofibromatosis, the tuberous sclerosis complex, and von Hippel-Lindau disease should allow new therapies for these diseases and other sporadic tumors to be developed. Ophthalmologists can contribute to this by their awareness of the multisystemic nature of these disorders.