title: An Update on the Ophthalmologic Features in the Phakomatoses.
abstract: Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant transformation. The alteration of tumor suppressor genes seems to be at the basis of their pathophysiogenetic mechanism. Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in Von Hippel-Lindau disease are the principal ophthalmic hamartomatous manifestations. The advent of novel imaging techniques such as near infrared reflectance and optical coherence tomography has provided unprecedented insight on the choroidal and retinal features of these diseases. These methods have improved early diagnosis and the ongoing surveillance in these conditions. Among an array of treatment modalities, antivascular endothelial growth factor therapy has been used in the management of retinal hamartomas but results have been varied. This review is an update on the pathophysiogenetic mechanisms, ophthalmic manifestations, and novel treatment strategies in the phakomatoses with emphasis on the role of imaging techniques.
authors: Ophthalmology Unit, DAI Testa/Collo, Azienda Policlinico Umberto I, Department of Sense Organs, University of Rome "Sapienza", Viale del Policlinico 155, 00161 Rome, Italy.
authors: Solmaz
authors: 0000-0003-0920-8732
authors: S
authors: Abdolrahimzadeh
authors: Ophthalmology Unit, DAI Testa/Collo, Azienda Policlinico Umberto I, Department of Sense Organs, University of Rome "Sapienza", Viale del Policlinico 155, 00161 Rome, Italy.
authors: Andrea Maria
authors: AM
authors: Plateroti
authors: Ophthalmology Unit, St. Andrea Hospital, NESMOS Department, University of Rome "Sapienza", Via di Grottarossa 1035-1039, 00189 Rome, Italy.
authors: Santi Maria
authors: SM
authors: Recupero
authors: Ophthalmology Unit, DAI Testa/Collo, Azienda Policlinico Umberto I, Department of Sense Organs, University of Rome "Sapienza", Viale del Policlinico 155, 00161 Rome, Italy.
authors: Alessandro
authors: A
authors: Lambiase