Phakomatoses are hereditary, multisystem disorders, characterized by the presence of lesions or tumors of the, skin, eye, and central nervous system (CNS). While their, systemic manifestations and genetic underpinnings are, constant, it is clear that the ophthalmologist can make, the initial diagnosis to help preserve patients’ quality, of life.1-3 This chapter highlights some of the common, genetic and clinical characteristics of phakomatoses, as, well as some of the more interesting associations most, likely seen by the eye care specialist.