Ocular findings associated with neurofibromatosis type II

Abstract

Background: Neurofibromatosis has been recently acknowledged as consisting of a number of different diseases. Neurofibromatosis (NF) type I and NF type II are the most clearly defined. Type II is characterized by bilateral acoustic neuromas and is rare (its incidence is 1/50,000). The previously reported ocular associations of NF type II are posterior subcapsular cataracts, Lisch nodules, and combined hamartomata of the retinal pigment epithelium and retina. In this study, the authors attempt to define further the ocular manifestations of NF type II.

Methods: The authors prospectively examined 9 patients who met the diagnostic criteria for NF type II (age, 18 to 38 years; mean, 25 years).

Results: Seven of nine patients had epiretinal membranes in the posterior pole. None of these epiretinal membranes were visually significant. In addition, five patients had central posterior cortical cataracts and five had peripheral wedge-shaped cortical cataracts.

Conclusion: The presence of epiretinal membranes in young patients may represent another clinical finding associated with NF type II. Epiretinal membranes, central posterior cataracts, peripheral cortical cataracts, or combined hamartoma of the retinal epithelium and retina in young patients should alert the ophthalmologist to include NF type II in the differential diagnosis in patients with stigmata of NF type II.