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.
Keywords: NF1; Neurofibromatosis; RAH; RRAT; RVPT; focal nodular gliosis; pediatric tumor; phakomatosis; retinal astrocytic hamartoma; retinal microvascular abnormalities; retinal reactive astrocytic tumor; retinal vasoproliferative tumor.