title: Combined hamartoma of the retina and retinal pigment epithelium in a patient with neurofibromatosis type 2.
abstract: We describe a young patient with combined hamartoma of the retina and retinal pigment epithelium who developed bilateral acoustic neuromas and meningiomas of the cervical-medullary junction and fifth cranial nerve. This case illustrates the association between combined hamartoma of the retina and retinal pigment epithelium and neurofibromatosis type 2. The authors recommend that children with a combined hamartoma of the retina and retinal pigment epithelium be screened for neurofibromatosis type 2.
authors.affiliation: Oncology Unit, Wills Eye Hospital, Philadelphia, PA 19107.
authors.forename: A
authors.initials: A
authors.lastname: Sivalingam
authors.forename: J
authors.initials: J
authors.lastname: Augsburger
authors.forename: G
authors.initials: G
authors.lastname: Perilongo
authors.forename: R
authors.initials: R
authors.lastname: Zimmerman
authors.forename: G
authors.initials: G
authors.lastname: Barabas
mesh_terms: D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006222:Hamartoma / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008577:Meningeal Neoplasms / Q000175:diagnosis; D008579:Meningioma / Q000175:diagnosis; D009378:Neoplasms, Multiple Primary; D016518:Neurofibromatosis 2 / Q000175:diagnosis; D010857:Pigment Epithelium of Eye; D012164:Retinal Diseases / Q000175:diagnosis; D014792:Visual Acuity