title: The ocular presentation of neurofibromatosis 2.
abstract: Neurofibromatosis 2 (NF2) is an inherited disorder characterised primarily by bilateral vestibular schwannomas and other central nervous system tumours. Individuals with NF2 also have early onset cortical and posterior subcapsular or capsular cataract and other ocular abnormalities, such as retinal hamartomas. Although their diagnostic significance is rarely appreciated, the ocular manifestations are often the first sign of disease. We describe 5 cases that illustrate the diverse ocular manifestations of NF2.
authors.affiliation: Division of Ophthalmology, Childrens Hospital Los Angeles, California, USA.
authors.forename: N K
authors.initials: NK
authors.lastname: Ragge
authors.forename: M E
authors.initials: ME
authors.lastname: Baser
authors.forename: V M
authors.initials: VM
authors.lastname: Riccardi
authors.forename: R E
authors.initials: RE
authors.lastname: Falk
mesh_terms: D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000209:etiology; D005128:Eye Diseases / Q000209:etiology*; D005260:Female; D005654:Fundus Oculi; D006222:Hamartoma / Q000209:etiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000150:complications*; D015835:Ocular Motility Disorders / Q000209:etiology; D012164:Retinal Diseases / Q000209:etiology