ABSTRACT
The phakomatoses (greek : birthmark) are a group of disorders predominantly affecting the skin, nervous system, and eyes amongst other organs. All are characterized by hamartomatous lesions.
Problem
Early diagnosis is essential to identify those patients who are at risk of the damaging sequelae from disease progression. Within each condition, there are a wide variety of clinical presentations of which the clinician should be aware. Many patients who have a phakomatosis will present to an ophthalmologist as the first specialist physician.
