Phacomatoses

Phacomatoses are a diverse group of illnesses with varying patterns of inheritance. Although the central nervous system is the primary target of these disorders, they can also affect the skin, viscera, eye, and other connective tissues, with varying clinical presentations. Nowadays, there are currently over 30 entities in this group. In our review, we will demonstrate the hereditary pattern, systemic and ocular features, and as well as diagnostic criteria of the most common phacomatosis syndromes.