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Retinal Reactive Astrocytic Tumor and Astrocytic hamartomas in patient with Neurofibromatosis type 1: Case Report and
Theodora Hadjistilianou1, Alberto Carnicci1, Carlo D'Alessandro1
1Department of Medicine, Surgery and Neuroscience, Unit of Ophthalmology, Ocular Oncology, University of Siena, Siena, Italy.
Introduction:
Neurofibromatosis type I, also known as Von Recklinghausen disease, is a common phakomatosis affecting 1 in 2500-3000 live births; it may be associated with several common ocular findings, including Lisch nodules, plexiform neurofibromas, optic pathway gliomas, retinal astrocytic hamartomas and choroidal nodules.
Case Description:
This report illustrates clinical evidence of simultaneous presence of retinal reactive astrocytic tumor (RRAT) and two retinal astrocytic hamartomas (RAH) in a 15 y/o patient with NF1, referred to our attention because of an asymptomatic fundus mass in his right eye of recent onset.
Conclusion:
This case, in addition to considering NF1 as one of the ocular conditions associated with secondary RRAT, underlines the importance of early referral and continuous ophthalmological follow-up in preventing possible complications that could cause significant visual impairment in patients with NF1.
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