PURPOSE: Neurofibromatosis type 1 (NF-1) complicates various tumors originating from the neural crest. The authors report a case of NF-1 presenting with globe enlargement and subretinal and choroidal neovascularization associated with choroidal ganglioneuroma. METHODS: A 7-year-old boy with NF-1 had severe ocular pain OS. He has a medical history of congenital glaucoma OS. Left eye showed increased intraocular pressure, buphthalmos, corneal opacity, hyphema, and vitreous hemorrhage. Magnetic resonance imaging indicated prominent vitreous hemorrhage and a choroidal tumor. Enucleation was consequently performed OS. RESULTS: Histopathologic diagnosis of the choroidal tumor was ganglioneuroma admixed with microvessels and melanocytes. There was a huge subretinal and choroidal fibrovascular membrane formation originating from the choroidal ganglioneuroma. CONCLUSIONS: Severe ocular pain in this patient was caused by intraocular neovascularization and subsequent increased eyeball content by vitreous hemorrhage associated with the choroidal tumor. In NF-1 with orbitofacial involvement, detection of intraocular tumor by imaging tests may predict tumor-associated severe ophthalmic complications.
PURPOSE:Neurofibromatosis type 1 (NF-1) complicates various tumors originating from the neural crest. The authors report a case of NF-1 presenting with globe enlargement and subretinal and choroidal neovascularization associated with choroidal ganglioneuroma. METHODS: A 7-year-old boy with NF-1 had severe ocular pain OS. He has a medical history of congenital glaucoma OS. Left eye showed increased intraocular pressure, buphthalmos, corneal opacity, hyphema, and vitreous hemorrhage. Magnetic resonance imaging indicated prominent vitreous hemorrhage and a choroidal tumor. Enucleation was consequently performed OS. RESULTS: Histopathologic diagnosis of the choroidal tumor was ganglioneuroma admixed with microvessels and melanocytes. There was a huge subretinal and choroidal fibrovascular membrane formation originating from the choroidal ganglioneuroma. CONCLUSIONS: Severe ocular pain in this patient was caused by intraocular neovascularization and subsequent increased eyeball content by vitreous hemorrhage associated with the choroidal tumor. In NF-1 with orbitofacial involvement, detection of intraocular tumor by imaging tests may predict tumor-associated severe ophthalmic complications.
Authors: Sarah W DeParis; Michele Bloomer; Ying Han; M Reza Vagefi; Joseph T C Shieh; David A Solomon; James Grenert; Alejandra G de Alba Campomanes Journal: Ocul Oncol Pathol Date: 2016-11-22