PURPOSE To describe the clinical findings of RVPT in children with NF1. These benign lesions represent reactive gliovascular proliferations, with varying degrees of both gliosis and vascular proliferation SETTING / VENUE Ophthalmology Unit,Ocular Oncology Service, Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy. METHODS we report two cases (respectively of 8 and 15 years old )of RVPTin NF1. The demographics, clinical features and clinical course, were recorded.NF1 was confirmed based on NIH diagnostic criteria. Slit lamp examination was performed, looking specifically for Lisch nodules. Detailed fundus examination including fundus photography, (RetCam and PanoCam imaging), SLO ultrawide, fundus autofluorescence (FAF), fluorescein angiography ,OCT and ultrasounds were conducted on both patients. RESULTS The first case is a 8 yo boy who presented with swelling and ptosis of the right upper eyelid caused by orbital plexiform neurofibroma. BCVA was 20/40 in both eyes. Right eye fundus examination showed a fibrovascular mass involving the infero-nasal periphery with exudation and vascular abnormalities. The second case, a 15 year old boy presented without oculofacial signs and a BCVA of 20/20 in both eyes. Lisch nodules were noted in both eyes at the slit lamp examination. Fundus examination showed adjacent retinal vasoproliferative tumor and hamartomas in the same eye(RE) CONCLUSIONS Neurofibromatosis type 1 (NF1) is a well-known oculoneurocutaneous syndrome with extensive clinical manifestations, including a variety of uveal and retinal findings, such as iris Lisch nodules and multiple choroidal nevi, retinal astrocytic hamartomas ,combined hamartomas ,capillary hemangiomas, retinal microvascular abnormalities and choroidal freckling.The presence of retinal vasoproliferative tumor in NF1 is a quite rare event. The coexistence of vasoproliferative tumors and hamartomas in the same eye is even more unusual. FINANCIAL DISCLOSURES no
Hadjistilianou, T., Menicacci, C., Luciani, D., Dalessandro, C., DE FRANCESCO, S., Bacci, T., et al. (2023). Retinal VasoProliferative Tumors (RVPT) in Neurofibromatosis Type 1. In 23rd Euretina Congress. Basel : European Society of Retina Specialists.
Retinal VasoProliferative Tumors (RVPT) in Neurofibromatosis Type 1
Theodora Hadjistilianou
;CRISTINA MENICACCI;DIEGO LUCIANI;CARLO DALESSANDRO;SONIA DE FRANCESCO;TOMMASO BACCI;MARIO FRUSCHELLI
2023-01-01
Abstract
PURPOSE To describe the clinical findings of RVPT in children with NF1. These benign lesions represent reactive gliovascular proliferations, with varying degrees of both gliosis and vascular proliferation SETTING / VENUE Ophthalmology Unit,Ocular Oncology Service, Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy. METHODS we report two cases (respectively of 8 and 15 years old )of RVPTin NF1. The demographics, clinical features and clinical course, were recorded.NF1 was confirmed based on NIH diagnostic criteria. Slit lamp examination was performed, looking specifically for Lisch nodules. Detailed fundus examination including fundus photography, (RetCam and PanoCam imaging), SLO ultrawide, fundus autofluorescence (FAF), fluorescein angiography ,OCT and ultrasounds were conducted on both patients. RESULTS The first case is a 8 yo boy who presented with swelling and ptosis of the right upper eyelid caused by orbital plexiform neurofibroma. BCVA was 20/40 in both eyes. Right eye fundus examination showed a fibrovascular mass involving the infero-nasal periphery with exudation and vascular abnormalities. The second case, a 15 year old boy presented without oculofacial signs and a BCVA of 20/20 in both eyes. Lisch nodules were noted in both eyes at the slit lamp examination. Fundus examination showed adjacent retinal vasoproliferative tumor and hamartomas in the same eye(RE) CONCLUSIONS Neurofibromatosis type 1 (NF1) is a well-known oculoneurocutaneous syndrome with extensive clinical manifestations, including a variety of uveal and retinal findings, such as iris Lisch nodules and multiple choroidal nevi, retinal astrocytic hamartomas ,combined hamartomas ,capillary hemangiomas, retinal microvascular abnormalities and choroidal freckling.The presence of retinal vasoproliferative tumor in NF1 is a quite rare event. The coexistence of vasoproliferative tumors and hamartomas in the same eye is even more unusual. FINANCIAL DISCLOSURES no
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https://hdl.handle.net/11365/1265236
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