Annabella Salerni, Luca Scartozzi, Fabrizio Piccinni, Luigi Mosca, Roberta Mattei, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Stanislao Rizzo
In this report we illustrate the ophthalmologic assessment of two patients affected by Proteus Syndrome (PS), an extremely rare genetic disorder. Case #1 describes a 26 year old male patient followed for multiple ophthalmic anomalies: a limbal dermoid cyst, a unilateral cataract, bilateral nystagmus, severe myopia and unilateral optic nerve head drusen. Case #2 describes a 20 year old female patient referred to our Ophthalmology Department for a routine ophthalmologic evaluation after being treated for 3 years with Miransertib (an experimental AKT-pathway inhibitor)...
September 13, 2022: European Journal of Ophthalmology