Neuro-ophthalmology of the phacomatoses

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 and central nervous system manifestations in patients with phacomatoses makes neuro-ophthalmologic evaluation particularly important in diagnosis and management. This review provides an overview of the phacomatoses with emphasis on recent reports of significance to neuro-ophthalmology.