Intraocular neovascularization associated with choroidal ganglioneuroma in neurofibromatosis type 1.

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.