May 2007
Volume 48, Issue 13
ARVO Annual Meeting Abstract  |   May 2007
Ocular Pathology of Neurofibromatosis Type 2
Author Affiliations & Notes
  • M. E. McLaughlin
    Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
    Opthalmology, Novartis, Cambridge, Massachusetts
  • S. M. Pepin
    Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
  • S. Lessell
    Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
  • Footnotes
    Commercial Relationships M.E. McLaughlin, Novartis, E; S.M. Pepin, None; S. Lessell, None.
  • Footnotes
    Support Burroughs Wellcome Fund Career Award in the Biomedical Sciences
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 3990. doi:
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    • Get Citation

      M. E. McLaughlin, S. M. Pepin, S. Lessell; Ocular Pathology of Neurofibromatosis Type 2. Invest. Ophthalmol. Vis. Sci. 2007;48(13):3990.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose:: Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by well-differentiated tumors of the central and peripheral nervous system. A variety of ocular lesions have also been associated with NF2. Juvenile posterior subcapsular cataracts and epiretinal membranes, in particular, occur at a high frequency in this patient population, yet little is known about the pathology of these lesions. Our objectives were to describe the ocular pathology of NF2, develop mouse models that recapitulate this pathology, and thereby, gain insight into the pathogenesis of this disease.

Methods:: Using standard histologic techniques, immunohistochemistry and electron microscopy, we described the ocular pathology of three patients who died from complications of NF2. To generate a mouse model of the retinal pathology, we crossed Nf2 conditional mice to α-Cre transgenic mice that express Cre recombinase specifically in the retina.

Results:: We identified four types of NF2-associated lesions, juvenile posterior subcapsular cataracts, epiretinal membranes, an intrascleral schwannoma, and neurotrophic keratopathy in the eyes of the patients. Deletion of Nf2 in the mouse retina resulted in the formation of epiretinal membranes histologically similar to those of the patients.

Conclusions:: Our analysis indicates that dysplastic lens cells accumulate just anterior to the posterior lens capsule in juvenile posterior subcapsular cataracts and that dysplastic Muller cells may be a major component of NF2-associated epiretinal membranes. Our findings suggest that a subset of glial cells with epithelial features (Schwann cells, ependymal cells and Muller cells) may be particularly sensitive to NF2 loss. Using our mouse model to understand the molecular basis for this sensitivity may lead to novel strategies for treating NF2.

Keywords: pathology: human • oncology • Muller cells 

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