Ocular pathologic findings of neurofibromatosis type 2.
OBJECTIVE
To gain insight into the pathogenesis of neurofibromatosis type 2 (NF2) by investigating the ocular manifestations of this disease.


METHODS
Using standard histologic techniques, immunohistochemistry, and electron microscopy, we described the ocular pathologic findings of a 34-year-old woman who died from complications of NF2.


RESULTS
We identified 3 types of NF2-associated lesions: juvenile posterior subcapsular cataracts, epiretinal membranes, and an intrascleral schwannoma.


CONCLUSIONS
Our analysis indicated that dysplastic lens cells accumulate just anterior to the posterior lens capsule in juvenile posterior subcapsular cataracts and that dysplastic Müller cells may be a major component of NF2-associated epiretinal membranes. Clinical Relevance Our findings suggest that a subset of glial cells with epithelial features (Schwann cells, ependymal cells, and Müller cells) may be particularly sensitive to loss of the NF2 gene. Understanding the molecular basis for this sensitivity may lead to novel strategies for treating NF2.
McLaughlin
Margaret E
ME
Massachusetts Institute of Technology Center for Cancer Research, 40 Ames St, Cambridge, MA 02139, USA. memclaughlin@partners.org
Pepin
Susan M
SM
Maccollin
Mia
M
Choopong
Pitipol
P
Lessell
Simmons
S
D000328:Adult; D002386:Cataract / Q000473:pathology*; D019773:Epiretinal Membrane / Q000473:pathology*; D005134:Eye Neoplasms / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D006801:Humans; D007124:Immunoenzyme Techniques; D007633:Keratins / Q000378:metabolism; D018396:Mucin-1 / Q000378:metabolism; D009442:Neurilemmoma / Q000473:pathology*; D016518:Neurofibromatosis 2 / Q000473:pathology*; D009418:S100 Proteins / Q000378:metabolism; D015422:Scleral Diseases / Q000473:pathology*
D005904:Glial Fibrillary Acidic Protein; D018396:Mucin-1; D009418:S100 Proteins; D007633:Keratins