2020–2021 BCSC Basic and Clinical Science Course™
6 Pediatric Ophthalmology and Strabismus
Part II: Pediatric Ophthalmology
Chapter 28: Ocular Manifestations of Systemic Disease
Neurofibromatosis Type 2
Neurofibromatosis type 2 (NF2) is diagnosed clinically by the presence of bilateral acoustic neuromas (eighth cranial nerve tumors) or by a first-degree relative with NF2 and presence of a unilateral acoustic neuroma, neurofibroma, meningioma, schwannoma, glioma, or early-onset posterior subcapsular cataract. Patients typically present in their teens or early adulthood with signs or symptoms related to the eighth nerve tumor(s), including decreased hearing or tinnitus. The most characteristic ocular finding in NF2 is lens opacity, especially posterior subcapsular cataract or wedge-shaped cortical cataracts. Up to 80% of patients have epiretinal membranes or combined hamartomas of the retina and retinal pigment epithelium (RPE). Lisch nodules of the iris can occur in NF2 but are infrequent. Salient features are summarized in Table 28-3.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.