[The Gorlin-Goltz 5th phakomatosis: ophthalmological aspects of a case]

Phakomatoses are congenital diseases characterized by several neoformations affecting tissues originated from ectoderm. The most typical ophthalmic affection is the retinal hamartoma: it can be of angiomatous (Von Hippel-Lindau's Syndrome, Sturge-Weber's Disease) or neuroglioblastic type (Von Recklinghausen's Disease, Bourneville's Disease). In addition to the above-mentioned ones, some include among phakomatoses other diseases such as Louis-Bar's Syndrome, Rendu-Osler's Syndrome and, recently, Gorlin-Goltz's Syndrome. Authors present the case of a young girl, who in addition to the typical G-G's Syndrome osteo-cutaneous features was affected by retinal lesions of hamartomatous type. Photographic documents are displayed.