ABSTRACT
It is appropriate that following the chapter on ocular tumors is one devoted to the phakomatoses, a group of distinct clinical and genetic entities, with the common pathologic finding of hamartomas and/or tumors in various organs and tissues. This discussion on the phakomatoses will be limited to those in which the eye is also affected, including the four phakomatoses originally delineated by van der Hoeve in 1937 (1) and the others added since then.
