Neuro-ophthalmology of the phacomatoses.

Abstract excerpt

The phacomatoses are a group of disorders that feature multiple hamartomas of the central and peripheral nervous system, eye, skin, and viscera. Most of these disorders have a well-defined Mendelian pattern of inheritance because of a mutation in a single gene which has been identified. In other instances, no clear patterns of inheritance or genetic susceptibility have been recognized. The combination of ocular...

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