title: Bilateral Combined Hamartomas of the Retina and Retinal Pigment Epithelium as the Presenting Feature of Neurofibromatosis Type 2 (Wishart Type).
abstract: An 8-week-old healthy female infant manifested leukocoria and reduced vision in the left eye. She was found to have bilateral combined hamartomas of the retina and retinal pigment epithelium. There were no other features of neurofibromatosis type 2 and brain imaging was normal. At 6 months of age, subtle posterior subcapsular lens opacity was noted in the right eye. Genetic testing for neurofibromatosis type 2 was advised but not performed. At 3 years of age, leg weakness with quadriceps atrophy led to neuroimaging and detection of multiple tumors, including bilateral vestibular schwannomas and cervical, thoracic, and lumbar paraspinal schwannomas. Molecular testing revealed a nonsense mutation in the neurofibromatosis type 2 gene. Bilateral combined hamartomas were the presenting feature of a severe phenotype of neurofibromatosis type 2.
authors.forename: Brian K
authors.initials: BK
authors.lastname: Firestone
authors.forename: Juan D
authors.initials: JD
authors.lastname: Arias
authors.forename: Carol L
authors.initials: CL
authors.lastname: Shields
authors.forename: Jerry A
authors.initials: JA
authors.lastname: Shields
mesh_terms: D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006222:Hamartoma / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D016518:Neurofibromatosis 2 / Q000175:diagnosis*; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D014792:Visual Acuity