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. 1995:93:245-52; discussion 252-7.
doi: 10.1016/s0002-9394(14)70558-6.

Retinal changes associated with neurofibromatosis 2

S M Meyers  1 , F A Gutman, L D Kaye, A D Rothner
Affiliations

Retinal changes associated with neurofibromatosis 2

S M Meyers et al. Trans Am Ophthalmol Soc. 1995.

Abstract

Introduction: Neurofibromatosis (NF) is now known to be more than one disease. NF2, formerly classified as central neurofibromatosis, is characterized by bilateral vestibular schwannomas, previously termed "acoustic neuromas", and is much less common than NF1. Lens opacities at an early age have been described in approximately 85% of NF2 patients.

Purpose: To determine the frequency of retinal abnormalities in NF2 patients.

Methods: We prospectively examined 15 consecutive patients who met the diagnostic criteria of NF2.

Results: We observed an epiretinal membrane in the macular or paramacular area in 12 of 15 patients, and a combined pigment epithelial and retinal hamartoma in the macula of one patient who also had an epiretinal membrane in the macula of the other eye. Additionally, 11 patients had central posterior cortical, subcapsular, or peripheral cortical lens opacities.

Conclusions: Children or young patients with epiretinal membranes, combined pigment epithelial retinal hamartoma, and lens opacities that are not the result of other ocular disorders should have a neurologic evaluation and a careful family history for NF2.

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