Journal
EUROPEAN JOURNAL OF OPHTHALMOLOGY
Volume 33, Issue 5, Pages NP5-NP10Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1177/11206721221125852
Keywords
Proteus syndrome; optic nerve drusen; limbal dermoid cyst; myopic chorioretinopathy; miransertib
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This report illustrates the ophthalmologic assessment of two patients with Proteus Syndrome. Both cases involve multiple ophthalmic anomalies and a multimodal imaging evaluation was performed to track the disease evolution and characterize this rare syndrome further.
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). Both patients underwent a complete ophthalmologic examination and a multimodal imaging evaluation. The multimodal imaging approach has revealed useful to evaluate both cases in detail and to keep track of disease evolution over time, moreover providing helpful features to further characterize this rare syndrome.
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